Diseases of immune dysregulation: Difference between revisions

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Diseases of Immune Dysregulation
Congenital Defects of Phagocytes
Defects in Intrinsic and Innate Immunity
Auto-inflammatory Disorders
Complement Deficiencies
Phenocopies of Primary Immunodeficiency

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Latest revision as of 22:52, 28 January 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Zahir Ali Shaikh, MD [2], Anmol Pitliya, M.B.B.S. M.D.[3]

Overview

Immune dysregulation involves a variety of subcategories including hemophagocytic lymphohistiocytosis, EBV-related dysregulation, and autoimmunity.

Classification

Diseases of Immune Dysregulation

(A) Hemophagocytic lymphohistiocytosis (HLH) & EBV susceptibility

(B) Syndromes with Autoimmunity and Others

Hemophagocytic Lymphohistiocytosis (HLH) & EBV Susceptibility

Diseases Of Immune Dysregulation:
(A) Hemophagocytic Lymphohistiocytosis (HLH) & EBV Susceptibility

Hemophagocytic Lymphohistiocytosis(HLH)

Susceptibility to EBV

Hypopigmentation

Familial Hemophagocytic Lymphohistiocytosis Syndromes

EBV Associated with HLH

Chediak Higashi Syndrome:LYST

Perforin Deficiency(FHL2)

RASGRP1 Deficiency

XL,XLP1.SH2DIA

Griscelli Syndrome type2:RAB27a

UNC13D/Munc13-4 deficiency(FHL3)

CD70 Deficiency

XL,XLP2,XIAP

Hermansky Pudlak Syndrome type2:AP3B1

Syntaxin 11 Deficiency(FHL4)

CTPS1 Deficiency

AR, CD27 Deficiency

Hermansky Pudlak Syndrome type10

STXBP2/Munc18-2 Deficiency

RLTPR (CARMIL2) Deficiency

FAAP24 Deficiency

ITK Deficiency

MAGT1 Deficiency

PRKCD Deficiency

Syndromes with Autoimmunity and Others

Diseases of Immune Dysregulation:
(B) Syndromes with Autoimmunity and Others

Syndromes with Autoimmunity

Immune Dysregulation with Colitis:
IBD, Normal Tc & Bc

Increased CD4-CD8-TCR alpha/beta (Double Negative T cells)

IL10 Deficiency, IL10, AR

IL10Ra Deficiency, IL10RA, AR

IL10Rb Deficiency, IL10RB, RA

NFAT5 haploinsufficiency, NAFTS, AD

Yes

Occassionally

NO: Regulatory T cells Defects?

ALPS, Autoimmune Lymphoproliferative Syndrome

LRBA Deficiency

NO

YES

ALPS-FAS TNFRSF, AD or AR

STAT3 GOF mutation,STAT3 AD

Autoimmune Polyendocrinopathy with candidiasis & ectodermal dystrophy: APECED (APS-1)

IPEX Immune dysregulation, Polyendocrinopathy,enteropathy,X-linked FOXP-3

ALPS-FASLG TNFSF6, AR

ITCH Deficiency, ITCH, AR

CD25 Deficiency, IL2RA, AR

ALPS-Caspase10, Casp10, AD

ZAP70 combined hylomorphic and activation mutations, ZAP70, AR

CTLA4 deficiency (ALPSV) CTLA4, AD

ALPS-Caspase8, Casp8, AR

Tripeptidyl-peptidase II deficiency, TPP2, AR

BACH2 deficiency. BACH2, AD

FADD deficiency, FADD, AR

JAK1 GOF, JAK1, AD

Prolidase deficiency. PEPD, AR

Chediak Higashi Syndrome

Chediak Higashi syndrome is caused by homozygous or compound heterogenous autosomal recessive mutation in the lysosomal trafficking gene (LYST) on chromosome1q42.^[1]
It is characterized by photophobia, nystagmus, partial albinism, neutropenia, abnormal susceptibility to infections and malignant lymphoma, large eosinophilic peroxidase positive inclusion bodies in myeloblasts and promyelocytes of bone marrow.^[2]
The most effective treatment is hematopoeitic stem cell transplantation.^[3]
For more information on Chediak Higashi syndrome, click here.

Griscelli Syndrome type 2

Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutation in the RAB27A gene. ^[4]
It is characterized by partial albinism, immunodeficiency, organomegaly and accelerated phases which includes hemophagocytosis, pancytopenia and neurological deterioration.^[5]
The only curative treatment is hematopoeitic stem cell transplantation.^[6]

Hermansky Pudlak Syndrome type 2

Hermansky pudlak syndrome type 2 is caused by homozygous or compound heterogenous autosomal recessive mutation in the gene encoding the beta-3A subunit of AP3 complex (AP3B1) on chromosome 5q14.^[7]
It is characterized by platelet defects, oculocutaneous albinism, immunodeficiency, congenital neutropenia and pulmonary fibrosis.^[7]
Treatment includes chronic antibiotic therapy and granulocyte colony stimulating factor (G-CSF) because of neutropenia and management of complications as they arise.^[8]

Hermansky Pudlak Syndrome type 10

Hermansky pudlak syndrome type 10 is caused by an autosomal recessive mutation in AP3D1 gene on chromosome 19p13.^[9]
It is characterized by immunodeficiency, oculocutaneous albinism and severe neurological impairment including severely delayed global development and intractable seizures.^[9]
Treatment depends upon the manifestations of disease, granulocyte-colony stimulating factor (G-CSF) used when immunodeficiency is present.^[10]

Perforin Deficiency

Perforin is a glycoprotein responsible for pore formation in cell membranes of target cells. The main source of perforin are natural killer (NK) cells and CD8 positive T cells. A low amount of perforin is also expressed by CD4 positive T cells.^[11]
Diseases associated with perforin deficiency/defect include: hemophagocytic lymphohistiocytosis (HLH), leukemias, lymphomas, infectious diseases and autoimmune diseases.^[12]
Treatment depends upon the presentation of disease.^[13]

UNC13D/Munc13-4 Deficiency

Munc13-4 is a RAB27A effector that coordinates exocytosis in hematopoietic cells, its deficiency is associated with human immunodeficiency familial hemophagocytic lymphohistiocytosis type 3.^[14]
It is characterized by the features of hemophagocytic lymphohistiocytosis (HLH) including; fever, hepatosplenomegaly and cytopenias.^[15]
The only curative treatment is allogenic hematopoietic stem cell transplantation.^[16]

Syntaxin 11 Deficiency

Syntaxin 11 deficiency is caused by homozygous mutation in the syntaxin 11 gene located on chromosome 6q24.^[17]
Syntaxin 11 deficiency patients develop familial hemophagocytic lymphohistiocytosis 4(FHL4), characterized by fever, splenomegaly, bicytopenia, low/absent natural killer (NK) cell activity and increased ferritin.^[18]
The only treatment available is hematopoietic stem cell transplantation.^[19]

STXBP2/Munc18-2 Deficiency

STXBP2/Munc18-2 deficiency is caused by homozygous or compound heterogenous mutation in the syntaxin binding protein-2 gene (STXBP-2) on chromosome 19p13. ^[20]
STXBP2 deficiency causes familial hemophagocytic lymphohistiocytosis 5(FHL5), characterized by fever, hepatosplenomegaly, bicytopenia, increased triglycerides and ferritin with some atypical features including sensorineural hearing deficit, abnormal bleeding, or severe diarrhea.^[21]
Treatment involves; immunosuppressive and modulatory agents, management of complications and hematopoietic stem cell transplantation.^[22]

RASGRP1 Deficiency

RASGRP1 is an important guanine nucleotide exchange factor and activator of RAS-MAPK pathway following T cell antigen receptor (TCR) signaling.^[23]
RASGRP1 deficiency is caused by a mutation in RASGRP1 gene located on chromosome 15q14.^[24]
RASGRP1 deficiency causes severe autoimmune manifestations, life threatening immune dysregulation and susceptibility to EBV induced B cell malignancies.^[25]
Early diagnosis is important in management and hematopoietic stem cell transplantation is considered curative.^[26]

CD70 Deficiency

CD70 gene is located on chromosome 19p13.3. The protein encoded by this gene is a cytokine that belongs to TNF ligand family. This cytokine is a ligand for TNFRSF27/CD27.^[27]

CD70 is a surface antigen located on activated, but not resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances generation of cytotoxic T cells and contributes to T cell activation.^[28]
Its deficiency causes combined immunodeficiencies and EBV associated lymphoproliferation.^[29]
The treatment includes; immunosuppressive drugs like rituximab and hematopoietic stem cell transplantation.^[30]

CTPS1 Deficiency

CTPS1 gene is located on chromosome 1p34.2. It encodes an enzyme responsible for catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphosphate); which is an important step in the biosynthesis of phospholipids and nucleic acids.^[31]
CTPS1 deficiency is caused by loss of function mutation in the gene, that causes life threatening immunodeficiency characterized by impaired capacity of activated B and T cells to proliferate in response to antigen receptor mediated activation.^[32]
Treatment includes; management of compplications and hematopoietic stem cell transplantation.^[33]

RLTPR (CARMIL2) Deficiency

CARMIL2 gene is located on chromosome 16q22.1, which encodes a member of CARMIL (capping protein, Arp 2/3, myosin-I linker) family of proteins.The encoded protein interacts with & negatively regulates the heterodimeric capping protein and promotes cell migration. ^[34]
CARMIL2 deficiency is associated with autosomal recessive human immunodeficiency disorder, resulting in defective CD28 cosignalling and inadequate T cell activation, proliferation, differentiation, effector function and T cell polarity and migration.^[35]
It can present as failure to thrive, chronic diarrhea, recurrent skin and upper airway infections and psoriasis.^[36]

ITK Deficiency

ITK (Interleukin 2 inducible T cell Kinase) gene is located chromosome 5q33.3, encodes an intracellular tyrosine kinase expressed in T cells. It helps in T cell proliferation and differentiation.^[37]
It can present as fever, lymphadenopathy, hepatosplenomegaly, pulmonary involvement, T cell depletion and hypogammaglobulinemia.^[38]
Treatment options include; rituximab, IgG susbstitution and hematopoietic stem cell transplantation.^[39]

MAGT1 Deficiency

MAGT1 (magnessium transporter1) gene is located on chromosome Xq21.1, which encodes for a ubiquitously expressed magnessium cation transporter protein that localizes to cell membrane.^[40]
MAGT1 deficiency is caused by loss of function mutation in MAGT1 which leads to an immunodeficiency called XMEN syndrome characterized by chronic EBV infection, CD4 lymphopenia and EBV related lymphoproliferative disorders.^[41]
It can present as splenomegaly, dysgammaglobulinemia, persistent elevation in EBV viral load, EBV associated lymphoproliferative disorders and decreased CD4/CD8 ratio.^[42]
Treatment options include; antibiotic prophylaxis, antiviral prophylaxis, immunoglobulin replacement therapy, chemotherapy including rituximab, oral Mg2+ supplementation and hematopoietic stem cell transplantation.^[43]

PRKCD Deficiency

PRKCD (protein kinase C delta) gene located on chromosome 3p21.1 is a member of protein kinase C family of serine and threonine specific protein kinases, activated by diacylglycerol and is both a tumor suppressor and positive regulator of cell cycle progression. This protein can also positively or negatively regulate apoptosis.^[44]
PRKCD deficiency is associated with primary immunodeficiency with B cell deficiency and severe autoimmunity.^[45]
It can manifest as hepatosplenomegaly, lymphadenopathy, antiphospholipid antibody syndrome, SLE like syndrome, CNS vasculitis and recurrent infections.^[46]
Treatment includes; management of complications and hematopoietic stem cell transplantation.^[47]

XLP1

XLP1 (X linked lymphoproliferative disease type 1) also called as Duncan disease is caused by a mutation in the gene called SH2D1A located on chromosome Xq25.^[48]
SH2D1A gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells.^[49]
It can manifest as severe immune dysregulation, severe/fatal EBV infection, acquired hypogammaglobulinemia, hemophagocytic lymphohistiocytois (HLH), aplastic anemia, red cell aplasia and lymphomatoid granulomatosis. ^[50]^[51]
The only definitive treatment available for XLP1 is allogenic hematopoetic stem cell transplantation.^[52]

XLP2

XLP2 (X linked lymphoproliferative syndrome type2) is caused by a mutation in the gene called XIAP (X linked inhibitor of apoptosis) located on chromosome Xq25.^[53]
XIAP gene encodes a protein that belongs to a family of apoptotic suppressor proteins, members of this family share a baculovirus IAP repeat which is necessary for their anti-apoptotic function.^[54]
XLP2 can present as; fever, splenomegaly, chronic EBV infection, colitis/IBD,hemophagocytic lymphohistiocytosis (HLH) and recurrent infections.^[55]^[56]
Treatment includes; immunosuppressive agents such as steroids or etoposide or antithymocyte globulin, rituximab and IV immunoglobulin replacement therapy. The only curative treatment is allogenic hematopoietic stem cell transplantation (HST).^[57]

CD27 Deficiency

CD27 deficiency/Lymphoproliferative syndrome type 2 is an autosomal recessive disease caused by a mutation in CD27 gene located on chromosome 12p13.31.^[58]
CD27 gene encodes a [[protien of TNF-receptor superfmaily, which is required for generation and longterm maintenance of T cell immunity. It binds to CD70 and plays a role in regulating B cell activation and immunoglobulin synthesis.^[59]
It presents with persistent EBV viremia, hypogammaglobulinemia, hemophagocytic lymphohistiocytosis (HLH) and malignant lymphoma.^[60]
Treatment includes; management of complications, rituximab and allogenic hematopoietic stem cell transplantation.^[61]

FAAP24 Deficiency

FAAP24 (fanconi anemia associated protein 24) plays a crucial role in DNA damage response, is located on chromosome 19q13.11.^[62]^[63]
FAAP24 deficiency can present as EBV associated lymphoproliferative disease, fanconi anemia.^[64]^[65]

Autoimmune Lymphoproliferative Syndrome(ALPS)

Autoimmune lymphoproliferative syndrome is caused by immune dysregulation due to a defect in lymphocyte apoptosis.^[66]
It occurs due to a mutation in the gene FAS (chromosome 10q23.31), but can also occur due to mutations in the genes FAS ligand (chromosome 1q24.3), caspase 10 (chromosome 9) and caspase 8 (chromosome 2q33.1).^[67]^[68]
It can be transmitted in an autosomal recessive and dominant fashion.^[69]
It presents as; lymphadenopathy, splenomegaly, increased risk of lymphoma and autoimmune disease which causes multilineage cytopenias.^[70]
Treatment includes; corticosteroids, immunosuppressive drugs, IVIG, granulocyte colony stimulating factor (G-CSF), hematopoietic stem cell transplantation (HST).^[71]

FADD Deficiency

FADD (Fas associated via death domain) gene located on chromosome 11q13.3 encodes a protein adapter molecule that interacts with various cell surface receptors including TNF receptor superfamily and mediates cell apoptotic signals.^[72]
FADD deficiency can present as recurrent infections, hepatic dsfunction, cardiovascular malformations, encephalopathy, decrease in hematopoietic stem cells and progenitor enriched population and autoimmune lymphoproliferative syndrome.^[73]^[74]
Treatment includes; supportive management and hematopoietic stem cell transplantation.^[75]

LRBA Deficiency

LRBA (lipopolysaccharide responsive biege like anchor protein) gene located on chromosome 4q31.3 encodes a protein which associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in secretion and membrane deposition of immune effector molecules.^[76]
LRBA deficiency can present as lymphoproliferation, autoimmunity, humoral immune deficiency, pure red cell aplasia, acquired amegakaryocytic thrombocytopenic purpura and IBD like symptoms.^[77]^[78]^[79]
Treatment includes; immunosuppressive therapy, immunoglobulin replacement therapy and hematopoietic stem cell transplantation (HST).^[80]

STAT3 GOF Mutations

STAT3 (signal transducer & activator of transcription 3) gene located on chromosome 17q21.2 encodes a protein, which when phosphorylated and activated translocates to the nucleus and mediates the expression of variety of genes, playing a key role in many cellular processes such as cell growth and apoptosis.^[81]
STAT3 GOF (STAT3 gain of function) mutation can present as; lymphocytic leukemia, myelodysplastic syndrome, aplastic anemia, infections, multiorgan autoimmune disease and short stature.^[82]
Treatment includes; steroids, IVIG, rituximab, mycophenolic acid and hematopoietic stem cell transplantation.^[83]^[84]

IL10 Deficiency

IL10 (interleukin 10) gene located on chromosome 1q32.1 encodes a protein that has pleiotropic effects in immunoregulation and inflammation. It downregulates the expression of Th1 cytokines, MHC class II antigens & costimulatory molecules on macrophages. It also enhances B cell survival, proliferation & antibody production.^[85]^[86]
IL10 deficency can present as; immune dysregulation and very early onset inflammatory bowel disease (VEO-IBD).^[87]^[88]
The only curative treatment option is hematopoietic stem cell transplantation (HST).^[89]^[90]

IL10RA Deficiency

IL10RA (internleukin 10 receptor subunit alpha) gene located on chromosome 11q23.3 encodes a protein which is a receptor for interleukin 10. It mediates the [[immunosuppression

immunosuppressive]] signal for IL10 and thus inhibits the synthesis of proinflammatory cytokines.^[91]

IL10RB Deficiency

IL10RB (interleukin 10 receptor subunit beta) gene located on chromosome 21q22.11 encodes a protein which belongs to cytokine receptor family. It is an accessory chain essential for active interleukin 10 receptor complex. Cooexpression of this and IL10RA protein is required for IL10 induced signal transduction.^[92]

NFAT5 Haploinsufficiency

NFAT5 (nuclear factor of activated T cells 5) gene located on chromosome 16q22.1 encodes a protein, which is a member of activated T cells family of transcription factors. They play a central role in inducible gene transcription during immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells.^[93]
NFAT5 haploinsufficiency presents with; autoimmune diseases, primary immunodeficiency syndromes, autoimmune enterocolopathy, decreased cytokines and NK cells and inflammatory bowel disease (IBD).^[94]
Treatment includes supportive management and immunosuppressive drugs.^[95]

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)

APECED or autoimmune polyendocrinopathy syndrome type 1 (APS1), an autoimmune recessive disease caused by a mutation in the gene called AIRE (autoimmune regulator) located on chromosome 21q22.3.^[96]
The autoimmune regulator gene (AIRE) encodes a transciptional regulator which plays an important role in immunity by regulating the expression of autoantigens & negative selection of autoreactive [[T cells] in thymus.^[97]
APECED is characterized by presence of chronic candida infection, autoimmune hypoparathyroidism and addison's disease. At least two of these three major components need to be present for diagnosis.^[98]
Other features of APECED include; ovarian failure, insulin dependant diabetes mellitus (IDDM), enamel hypoplasia, alopecia and nail dystrophy.^[99]
Management of APECED involves treatment of its individual conditions and knowledge and high index of suspicion of this rare syndrome can lead to early detection and prevention of most of its complications.^[100]

ITCH Deficiency

ITCH (itchy E3 ubiquitin protein ligase)gene located on chromosome 20q11.22 encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases, which plays a role in multiple cellular processes including erythroid and lymphoid cell proliferation and regulation of immune responses.^[101]
ITCH deficiency presents with hepatosplenomegaly, failure to thrive, developmental delay, dysmorphic features, relative macrocephaly, chronic lung disease and autoimmune diseases.^[102]
Treatment includes; corticosteroids, azathioprine, rapamycin and tacrolimus.^[103]

ZAP70 Mutations

ZAP70 (zeta chain associated protein kinase 70) gene located on chromosome 2q11.2 encodes an enzyme belonging to protein tyrosine kinase family & plays a role in T cell development and lymphocyte activation. This enzyme is also essential for thymocyte development.^[104]
ZAP70 mutations are associated with many autoimmune diseases including chronic lymphocytic leukemia (CLL) and severe combined immunodeficiency (SCID).^[105]
Treatment of choice is hematopoietic stem cell transplantation (HST).^[106]

Tripeptidyl Peptidase II deficiency (TPP2)

TPP2 (tripeptidyl peptidase 2) gene located on chromosome 13q33.1 encodes a mammalian peptidase that at neutral PH, removes tripeptides from N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation.^[107]
TPP2 deficiency causes recurrent infections, recurrent orolabial HSV-1 infections, early onset evan's syndrome,CNS SLE and developmental delays.^[108]^[109]
Treatment of choice is heamatopoietic stem cell transplantation (HST).^[110]

JAK1 GOF

JAK1 (janus kinase1) gene located on chromosome 1p31.3 encodes a membrane protein that is a member of class of protein tyrosine kinases (PTK) that plays a role in interferon-alpha/beta and interferon gamma signal transduction.^[111]
JAK1 GOF (gain of function) mutation causes autosomal dominant immune dysregulation, hypereosinophilia with eosinophilic infiltration of gastro interstinal tract, massive hepatosplenomegaly and atopic dermatitis.^[112]
Treatment includes; ruxolitinib and hematopoietic stem cell transplantation (HST).^[112]^[113]

Prolidase Deficiency

Prolidase gene located on chromosome 19q13.11 encodes a member of peptidase family. It forms a homodimer that hydrolyzes dipeptides or tripeptides with C terminal proline or hydroxyproline residues. The enzyme has an important role in recycling of proline and may be rate limiting for production of collagen.^[114]
Prolidase deficiency presents with skin lesions, recurrent infections, dysmorphic facial features, hepatomegaly with elevated liver enzymes, splenomegaly, intellectual disability, anemia, thrombocytopenia, and hypergammaglobulinemia.^[115]
Treatment includes; treatment of manifestations and supportive treatment. There is no curative treatment available.^[116]

IPEX (Immune dysregulation, Polyendocrinopathy,enteropathy)

IPEX also called X-linked autoimmunity-immunodeficiency syndromes caused by a defect in the gene called FOXP3 (forkhead box P3) located on chromosome Xp11.23.^[117]
FOXP3 gene encodes a protein member of forkhead/winged-helix family of transcriptional regulators.^[118]
It is characterized by the clinical triad of watery diarrhea, endocrinopathy (commonly IDDM) and eczematous dermatitis. Other features include; splenomegaly, lymphadenopathy, cytopenias and autoimmune hepatitis or nephropathy.^[119]
Treatment includes; management of the complications and hematopoietic stem cell transplantation (HST) remains the ony cure.^[120]

CD25 Deficiency (IL2RA)

CD25 deificiency is caused by IL10RA (internleukin 10 receptor subunit alpha) deficiency, whose gene located on chromosome 11q23.3 encodes a protein which is a receptor for interleukin 10. It mediates the immunosuppressive signal for IL10 and thus inhibits the synthesis of proinflammatory cytokines.^[121]
CD25 deficiency can present with primary biliary cirrhosis, chronic and severe inflammatory lung disease and immune dysregulation, endocrinopathy, enteropathy, X linked like syndrome.^[122]^[9]
Treatment includes; corticosteroids, rituximab, intravenous immunglobulin, cyclosporin, antibiotics and bone marrow transplantation.^[123]^[124]

CTLA4 Deficiency (ALPSV)

CLTA4 (cytotoxic T lymphocyte associated protein 4) gene located on chromosome 2q33.2 encodes a protein which transmits an inhibitory signal to T cells.^[125]
CLTA4 deficiency can present with lymphadenopathy, splenomegaly, hypogammaglobulinemia, organ specific autoimmunity and lymphocytic infiltration of nonlymphoid organs.^[126]
Treatment includes; abatacept, sirolimus, chloroquine and hematopoietic stem cell transplantation (HST).^[126]

BACH2 Deficiency

BACH2 (BTB domain and CNC homolog2) gene located on chromosome 6q15 encodes a transcription factor which represses its target genes and plays an important role in differentiation of T and B lymphoid cells.^[127]^[128]
BACH2 deficiency can present with lymphadenopathy, splenomegaly, inflammatory bowel disease, chronic diarrhea and recurrent sinopulmonary infections.^[129]
Treatment includes hematopoietic stem cell transplantation (HST).^[130]

References

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↑ Martha-Lena Muller, Samuel C. C. Chiang, Marie Meeths, Bianca Tesi, Miriam Entesarian, Daniel Nilsson, Stephanie M. Wood, Magnus Nordenskjold, Jan-Inge Henter, Ahmed Naqvi & Yenan T. Bryceson (2014). "An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2". Frontiers in immunology. 4: 515. doi:10.3389/fimmu.2013.00515. PMID 24459464. Unknown parameter |month= ignored (help)
↑ Udo zur Stadt, Jan Rohr, Wenke Seifert, Florian Koch, Samantha Grieve, Julia Pagel, Julia Strauss, Brigitte Kasper, Gudrun Nurnberg, Christian Becker, Andrea Maul-Pavicic, Karin Beutel, Gritta Janka, Gillian Griffiths, Stephan Ehl & Hans Christian Hennies (2009). "Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11". American journal of human genetics. 85 (4): 482–492. doi:10.1016/j.ajhg.2009.09.005. PMID 19804848. Unknown parameter |month= ignored (help)
↑ Julia Pagel, Karin Beutel, Kai Lehmberg, Florian Koch, Andrea Maul-Pavicic, Anna-Katharina Rohlfs, Abdullah Al-Jefri, Rita Beier, Lilian Bomme Ousager, Karoline Ehlert, Ute Gross-Wieltsch, Norbert Jorch, Bernhard Kremens, Arnulf Pekrun, Monika Sparber-Sauer, Ester Mejstrikova, Angela Wawer, Stephan Ehl, Udo zur Stadt & Gritta Janka (2012). "Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)". Blood. 119 (25): 6016–6024. doi:10.1182/blood-2011-12-398958. PMID 22451424. Unknown parameter |month= ignored (help)
↑ Melissa R. George (2014). "Hemophagocytic lymphohistiocytosis: review of etiologies and management". Journal of blood medicine. 5: 69–86. doi:10.2147/JBM.S46255. PMID 24966707.
↑ Elisabeth Salzer, Deniz Cagdas, Miroslav Hons, Emily M. Mace, Wojciech Garncarz, Ozlem Yuce Petronczki, Rene Platzer, Laurene Pfajfer, Ivan Bilic, Sol A. Ban, Katharina L. Willmann, Malini Mukherjee, Verena Supper, Hsiang Ting Hsu, Pinaki P. Banerjee, Papiya Sinha, Fabienne McClanahan, Gerhard J. Zlabinger, Winfried F. Pickl, John G. Gribben, Hannes Stockinger, Keiryn L. Bennett, Johannes B. Huppa, Loic Dupre, Ozden Sanal, Ulrich Jager, Michael Sixt, Ilhan Tezcan, Jordan S. Orange & Kaan Boztug (2016). "RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics". Nature immunology. 17 (12): 1352–1360. doi:10.1038/ni.3575. PMID 27776107. Unknown parameter |month= ignored (help)
↑ Elisabeth Salzer, Deniz Cagdas, Miroslav Hons, Emily M. Mace, Wojciech Garncarz, Ozlem Yuce Petronczki, Rene Platzer, Laurene Pfajfer, Ivan Bilic, Sol A. Ban, Katharina L. Willmann, Malini Mukherjee, Verena Supper, Hsiang Ting Hsu, Pinaki P. Banerjee, Papiya Sinha, Fabienne McClanahan, Gerhard J. Zlabinger, Winfried F. Pickl, John G. Gribben, Hannes Stockinger, Keiryn L. Bennett, Johannes B. Huppa, Loic Dupre, Ozden Sanal, Ulrich Jager, Michael Sixt, Ilhan Tezcan, Jordan S. Orange & Kaan Boztug (2016). "RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics". Nature immunology. 17 (12): 1352–1360. doi:10.1038/ni.3575. PMID 27776107. Unknown parameter |month= ignored (help)
↑ Ido Somekh, Benjamin Marquardt, Yanshan Liu, Meino Rohlfs, Sebastian Hollizeck, Musa Karakukcu, Ekrem Unal, Ebru Yilmaz, Turkan Patiroglu, Murat Cansever, Shirly Frizinsky, Vicktoria Vishnvenska-Dai, Erez Rechavi, Tali Stauber, Amos J. Simon, Atar Lev, Christoph Klein, Daniel Kotlarz & Raz Somech (2018). "Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma". Journal of clinical immunology. 38 (6): 699–710. doi:10.1007/s10875-018-0533-8. PMID 30030704. Unknown parameter |month= ignored (help)
↑ Ido Somekh, Benjamin Marquardt, Yanshan Liu, Meino Rohlfs, Sebastian Hollizeck, Musa Karakukcu, Ekrem Unal, Ebru Yilmaz, Turkan Patiroglu, Murat Cansever, Shirly Frizinsky, Vicktoria Vishnvenska-Dai, Erez Rechavi, Tali Stauber, Amos J. Simon, Atar Lev, Christoph Klein, Daniel Kotlarz & Raz Somech (2018). "Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma". Journal of clinical immunology. 38 (6): 699–710. doi:10.1007/s10875-018-0533-8. PMID 30030704. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Hassan Abolhassani, Emily S. J. Edwards, Aydan Ikinciogullari, Huie Jing, Stephan Borte, Marcus Buggert, Likun Du, Mami Matsuda-Lennikov, Rosa Romano, Rozina Caridha, Sangeeta Bade, Yu Zhang, Juliet Frederiksen, Mingyan Fang, Sevgi Kostel Bal, Sule Haskologlu, Figen Dogu, Nurdan Tacyildiz, Helen F. Matthews, Joshua J. McElwee, Emma Gostick, David A. Price, Umaimainthan Palendira, Asghar Aghamohammadi, Bertrand Boisson, Nima Rezaei, Annika C. Karlsson, Michael J. Lenardo, Jean-Laurent Casanova, Lennart Hammarstrom, Stuart G. Tangye, Helen C. Su & Qiang Pan-Hammarstrom (2017). "Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency". The Journal of experimental medicine. 214 (1): 91–106. doi:10.1084/jem.20160849. PMID 28011864. Unknown parameter |month= ignored (help)
↑ Roberta Caorsi, Marta Rusmini, Stefano Volpi, Sabrina Chiesa, Claudia Pastorino, Angela Rita Sementa, Paolo Uva, Alice Grossi, Edoardo Lanino, Maura Faraci, Francesca Minoia, Sara Signa, Paolo Picco, Alberto Martini, Isabella Ceccherini & Marco Gattorno (2017). "CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever". Frontiers in immunology. 8: 2015. doi:10.3389/fimmu.2017.02015. PMID 29434583.
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Martin, Emmanuel; Palmic, Noé; Sanquer, Sylvia; Lenoir, Christelle; Hauck, Fabian; Mongellaz, Cédric; Fabrega, Sylvie; Nitschké, Patrick; Esposti, Mauro Degli; Schwartzentruber, Jeremy; Taylor, Naomi; Majewski, Jacek; Jabado, Nada; Wynn, Robert F.; Picard, Capucine; Fischer, Alain; Arkwright, Peter D.; Latour, Sylvain (2014). "CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation". Nature. 510 (7504): 288–292. doi:10.1038/nature13386. ISSN 0028-0836.
↑ Robert F. Wynn, Peter D. Arkwright, Tanzina Haque, Maged I. Gharib, Gwen Wilkie, Marie Morton-Jones & Dorothy H. Crawford (2005). "Treatment of Epstein-Barr-virus-associated primary CNS B cell lymphoma with allogeneic T-cell immunotherapy and stem-cell transplantation". The Lancet. Oncology. 6 (5): 344–346. doi:10.1016/S1470-2045(05)70171-6. PMID 15863383. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ T. Schober, T. Magg, M. Laschinger, M. Rohlfs, N. D. Linhares, J. Puchalka, T. Weisser, K. Fehlner, J. Mautner, C. Walz, K. Hussein, G. Jaeger, B. Kammer, I. Schmid, M. Bahia, S. D. Pena, U. Behrends, B. H. Belohradsky, C. Klein & F. Hauck (2017). "A human immunodeficiency syndrome caused by mutations in CARMIL2". Nature communications. 8: 14209. doi:10.1038/ncomms14209. PMID 28112205. Unknown parameter |month= ignored (help)
↑ T. Schober, T. Magg, M. Laschinger, M. Rohlfs, N. D. Linhares, J. Puchalka, T. Weisser, K. Fehlner, J. Mautner, C. Walz, K. Hussein, G. Jaeger, B. Kammer, I. Schmid, M. Bahia, S. D. Pena, U. Behrends, B. H. Belohradsky, C. Klein & F. Hauck (2017). "A human immunodeficiency syndrome caused by mutations in CARMIL2". Nature communications. 8: 14209. doi:10.1038/ncomms14209. PMID 28112205. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Sujal Ghosh, Kirsten Bienemann, Kaan Boztug & Arndt Borkhardt (2014). "Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects". Journal of clinical immunology. 34 (8): 892–899. doi:10.1007/s10875-014-0110-8. PMID 25339095. Unknown parameter |month= ignored (help)
↑ Sujal Ghosh, Kirsten Bienemann, Kaan Boztug & Arndt Borkhardt (2014). "Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects". Journal of clinical immunology. 34 (8): 892–899. doi:10.1007/s10875-014-0110-8. PMID 25339095. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Juan Ravell, Benjamin Chaigne-Delalande & Michael Lenardo (2014). "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect". Current opinion in pediatrics. 26 (6): 713–719. doi:10.1097/MOP.0000000000000156. PMID 25313976. Unknown parameter |month= ignored (help)
↑ Juan Ravell, Benjamin Chaigne-Delalande & Michael Lenardo (2014). "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect". Current opinion in pediatrics. 26 (6): 713–719. doi:10.1097/MOP.0000000000000156. PMID 25313976. Unknown parameter |month= ignored (help)
↑ Juan Ravell, Benjamin Chaigne-Delalande & Michael Lenardo (2014). "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect". Current opinion in pediatrics. 26 (6): 713–719. doi:10.1097/MOP.0000000000000156. PMID 25313976. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Salzer, E.; Santos-Valente, E.; Klaver, S.; Ban, S. A.; Emminger, W.; Prengemann, N. K.; Garncarz, W.; Mullauer, L.; Kain, R.; Boztug, H.; Heitger, A.; Arbeiter, K.; Eitelberger, F.; Seidel, M. G.; Holter, W.; Pollak, A.; Pickl, W. F.; Forster-Waldl, E.; Boztug, K. (2013). "B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C". Blood. 121 (16): 3112–3116. doi:10.1182/blood-2012-10-460741. ISSN 0006-4971.
↑ Elisabeth Salzer, Elisangela Santos-Valente, Barbel Keller, Klaus Warnatz & Kaan Boztug (2016). "Protein Kinase C delta: a Gatekeeper of Immune Homeostasis". Journal of clinical immunology. 36 (7): 631–640. doi:10.1007/s10875-016-0323-0. PMID 27541826. Unknown parameter |month= ignored (help)
↑ Elisabeth Salzer, Elisangela Santos-Valente, Barbel Keller, Klaus Warnatz & Kaan Boztug (2016). "Protein Kinase C delta: a Gatekeeper of Immune Homeostasis". Journal of clinical immunology. 36 (7): 631–640. doi:10.1007/s10875-016-0323-0. PMID 27541826. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ D. T. Purtilo (1981). "X-linked lymphoproliferative syndrome. An immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma". Archives of pathology & laboratory medicine. 105 (3): 119–121. PMID 6894075. Unknown parameter |month= ignored (help)
↑ Booth, C.; Gilmour, K. C.; Veys, P.; Gennery, A. R.; Slatter, M. A.; Chapel, H.; Heath, P. T.; Steward, C. G.; Smith, O.; O'Meara, A.; Kerrigan, H.; Mahlaoui, N.; Cavazzana-Calvo, M.; Fischer, A.; Moshous, D.; Blanche, S.; Pachlopnik Schmid, J.; Latour, S.; de Saint-Basile, G.; Albert, M.; Notheis, G.; Rieber, N.; Strahm, B.; Ritterbusch, H.; Lankester, A.; Hartwig, N. G.; Meyts, I.; Plebani, A.; Soresina, A.; Finocchi, A.; Pignata, C.; Cirillo, E.; Bonanomi, S.; Peters, C.; Kalwak, K.; Pasic, S.; Sedlacek, P.; Jazbec, J.; Kanegane, H.; Nichols, K. E.; Hanson, I. C.; Kapoor, N.; Haddad, E.; Cowan, M.; Choo, S.; Smart, J.; Arkwright, P. D.; Gaspar, H. B. (2010). "X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease". Blood. 117 (1): 53–62. doi:10.1182/blood-2010-06-284935. ISSN 0006-4971.
↑ Neelam Panchal, Claire Booth, Jennifer L. Cannons & Pamela L. Schwartzberg (2018). "X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective". Frontiers in immunology. 9: 666. doi:10.3389/fimmu.2018.00666. PMID 29670631.
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Xi Yang, Hirokazu Kanegane, Naonori Nishida, Toshihiko Imamura, Kazuko Hamamoto, Ritsuko Miyashita, Kohsuke Imai, Shigeaki Nonoyama, Kazunori Sanayama, Akiko Yamaide, Fumiyo Kato, Kozo Nagai, Eiichi Ishii, Menno C. van Zelm, Sylvain Latour, Xiao-Dong Zhao & Toshio Miyawaki (2012). "Clinical and genetic characteristics of XIAP deficiency in Japan". Journal of clinical immunology. 32 (3): 411–420. doi:10.1007/s10875-011-9638-z. PMID 22228567. Unknown parameter |month= ignored (help)
↑ Sylvain Latour & Claire Aguilar (2015). "XIAP deficiency syndrome in humans". Seminars in cell & developmental biology. 39: 115–123. doi:10.1016/j.semcdb.2015.01.015. PMID 25666262. Unknown parameter |month= ignored (help)
↑ . 1993. PMID 20301295. Missing or empty |title= (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Elisabeth Salzer, Svenja Daschkey, Sharon Choo, Michael Gombert, Elisangela Santos-Valente, Sebastian Ginzel, Martina Schwendinger, Oskar A. Haas, Gerhard Fritsch, Winfried F. Pickl, Elisabeth Forster-Waldl, Arndt Borkhardt, Kaan Boztug, Kirsten Bienemann & Markus G. Seidel (2013). "Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27". Haematologica. 98 (3): 473–478. doi:10.3324/haematol.2012.068791. PMID 22801960. Unknown parameter |month= ignored (help)
↑ Elisabeth Salzer, Svenja Daschkey, Sharon Choo, Michael Gombert, Elisangela Santos-Valente, Sebastian Ginzel, Martina Schwendinger, Oskar A. Haas, Gerhard Fritsch, Winfried F. Pickl, Elisabeth Forster-Waldl, Arndt Borkhardt, Kaan Boztug, Kirsten Bienemann & Markus G. Seidel (2013). "Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27". Haematologica. 98 (3): 473–478. doi:10.3324/haematol.2012.068791. PMID 22801960. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Spencer J. Collis, Alberto Ciccia, Andrew J. Deans, Zuzana Horejsi, Julie S. Martin, Sarah L. Maslen, J. Mark Skehel, Stephen J. Elledge, Stephen C. West & Simon J. Boulton (2008). "FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex". Molecular cell. 32 (3): 313–324. doi:10.1016/j.molcel.2008.10.014. PMID 18995830. Unknown parameter |month= ignored (help)
↑ Svenja Daschkey, Kirsten Bienemann, Volker Schuster, Hans Wolfgang Kreth, Rene Martin Linka, Andrea Honscheid, Gerhard Fritz, Christian Johannes, Bernhard Fleckenstein, Bettina Kempkes, Michael Gombert, Sebastian Ginzel & Arndt Borkhardt (2016). "Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24". Journal of clinical immunology. 36 (7): 684–692. doi:10.1007/s10875-016-0317-y. PMID 27473539. Unknown parameter |month= ignored (help)
↑ Hui Yang, Tianlong Zhang, Ye Tao, Fang Wang, Liang Tong & Jianping Ding (2013). "Structural insights into the functions of the FANCM-FAAP24 complex in DNA repair". Nucleic acids research. 41 (22): 10573–10583. doi:10.1093/nar/gkt788. PMID 24003026. Unknown parameter |month= ignored (help)
↑ Shaili Shah, Eveline Wu, V. Koneti Rao & Teresa K. Tarrant (2014). "Autoimmune lymphoproliferative syndrome: an update and review of the literature". Current allergy and asthma reports. 14 (9): 462. doi:10.1007/s11882-014-0462-4. PMID 25086580. Unknown parameter |month= ignored (help)
↑ Pu Li, Ping Huang, Ye Yang, Mu Hao, Hongwei Peng & Fei Li (2016). "Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS)". Clinical reviews in allergy & immunology. 50 (1): 55–63. doi:10.1007/s12016-015-8466-y. PMID 25663566. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Shaili Shah, Eveline Wu, V. Koneti Rao & Teresa K. Tarrant (2014). "Autoimmune lymphoproliferative syndrome: an update and review of the literature". Current allergy and asthma reports. 14 (9): 462. doi:10.1007/s11882-014-0462-4. PMID 25086580. Unknown parameter |month= ignored (help)
↑ V. Koneti Rao & Joao Bosco Oliveira (2011). "How I treat autoimmune lymphoproliferative syndrome". Blood. 118 (22): 5741–5751. doi:10.1182/blood-2011-07-325217. PMID 21885601. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Alexandre Bolze, Minji Byun, David McDonald, Neil V. Morgan, Avinash Abhyankar, Lakshmanane Premkumar, Anne Puel, Chris M. Bacon, Frederic Rieux-Laucat, Ki Pang, Alison Britland, Laurent Abel, Andrew Cant, Eamonn R. Maher, Stefan J. Riedl, Sophie Hambleton & Jean-Laurent Casanova (2010). "Whole-exome-sequencing-based discovery of human FADD deficiency". American journal of human genetics. 87 (6): 873–881. doi:10.1016/j.ajhg.2010.10.028. PMID 21109225. Unknown parameter |month= ignored (help)
↑ Stephen Rosenberg, Haibing Zhang & Jianke Zhang (2011). "FADD deficiency impairs early hematopoiesis in the bone marrow". Journal of immunology (Baltimore, Md. : 1950). 186 (1): 203–213. doi:10.4049/jimmunol.1000648. PMID 21115735. Unknown parameter |month= ignored (help)
↑ Savic, Sinisa; Parry, David; Carter, Clive; Johnson, Colin; Logan, Clare; Gutierrez, Beatriz Morillo; Thomas, Julian E.; Bacon, Chris M.; Cant, Andrew; Hambleton, Sophie (2015). "A new case of Fas-associated death domain protein deficiency and update on treatment outcomes". Journal of Allergy and Clinical Immunology. 136 (2): 502–505.e4. doi:10.1016/j.jaci.2015.02.002. ISSN 0091-6749.
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Madhvi Rajpurkar, Steven Buck, Jennifer Lafferty, Erin Wakeling, Yaddanapudi Ravindranath & Sureyya Savasan (2018). "Acquired Pure Red Cell Aplasia and Acquired Amegakaryocytic Thrombocytopenia Associated With Clonal Expansion of T-Cell Large Granular Lymphocytes in a Patient With Lipopolysaccharide-responsive Beige-like Anchor (LRBA) Protein Deficiency". Journal of pediatric hematology/oncology. doi:10.1097/MPH.0000000000001292. PMID 30188351. Unknown parameter |month= ignored (help)
↑ Bernice Lo, Kejian Zhang, Wei Lu, Lixin Zheng, Qian Zhang, Chrysi Kanellopoulou, Yu Zhang, Zhiduo Liu, Jill M. Fritz, Rebecca Marsh, Ammar Husami, Diane Kissell, Shannon Nortman, Vijaya Chaturvedi, Hilary Haines, Lisa R. Young, Jun Mo, Alexandra H. Filipovich, Jack J. Bleesing, Peter Mustillo, Michael Stephens, Cesar M. Rueda, Claire A. Chougnet, Kasper Hoebe, Joshua McElwee, Jason D. Hughes, Elif Karakoc-Aydiner, Helen F. Matthews, Susan Price, Helen C. Su, V. Koneti Rao, Michael J. Lenardo & Michael B. Jordan (2015). "AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy". Science (New York, N.Y.). 349 (6246): 436–440. doi:10.1126/science.aaa1663. PMID 26206937. Unknown parameter |month= ignored (help)
↑ Abdullah Alangari, Abdulrahman Alsultan, Nouran Adly, Michel J. Massaad, Iram Shakir Kiani, Abdulrahman Aljebreen, Emad Raddaoui, Abdul-Kareem Almomen, Saleh Al-Muhsen, Raif S. Geha & Fowzan S. Alkuraya (2012). "LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency". The Journal of allergy and clinical immunology. 130 (2): 481–488. doi:10.1016/j.jaci.2012.05.043. PMID 22721650. Unknown parameter |month= ignored (help)
↑ Bianca Tesi, Peter Priftakis, Fredrik Lindgren, Samuel C. C. Chiang, Nikolaos Kartalis, Alexandra Lofstedt, Esther Lorinc, Jan-Inge Henter, Jacek Winiarski, Yenan T. Bryceson & Marie Meeths (2016). "Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation". Journal of clinical immunology. 36 (5): 480–489. doi:10.1007/s10875-016-0289-y. PMID 27146671. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Joshua D. Milner, Tiphanie P. Vogel, Lisa Forbes, Chi A. Ma, Asbjorg Stray-Pedersen, Julie E. Niemela, Jonathan J. Lyons, Karin R. Engelhardt, Yu Zhang, Nermina Topcagic, Elisha D. O. Roberson, Helen Matthews, James W. Verbsky, Trivikram Dasu, Alexander Vargas-Hernandez, Nidhy Varghese, Kenneth L. McClain, Lina B. Karam, Karen Nahmod, George Makedonas, Emily M. Mace, Hanne S. Sorte, Gori Perminow, V. Koneti Rao, Michael P. O'Connell, Susan Price, Helen C. Su, Morgan Butrick, Joshua McElwee, Jason D. Hughes, Joseph Willet, David Swan, Yaobo Xu, Mauro Santibanez-Koref, Voytek Slowik, Darrell L. Dinwiddie, Christina E. Ciaccio, Carol J. Saunders, Seth Septer, Stephen F. Kingsmore, Andrew J. White, Andrew J. Cant, Sophie Hambleton & Megan A. Cooper (2015). "Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations". Blood. 125 (4): 591–599. doi:10.1182/blood-2014-09-602763. PMID 25359994. Unknown parameter |month= ignored (help)
↑ Michael Alexander Weinreich, Tiphanie P. Vogel, V. Koneti Rao & Joshua D. Milner (2017). "Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant". Frontiers in pediatrics. 5: 49. doi:10.3389/fped.2017.00049. PMID 28349047.
↑ Haddad, E. (2015). "STAT3: too much may be worse than not enough!". Blood. 125 (4): 583–584. doi:10.1182/blood-2014-11-610592. ISSN 0006-4971.
↑ W. K. Eddie Ip, Namiko Hoshi, Dror S. Shouval, Scott Snapper & Ruslan Medzhitov (2017). "Anti-inflammatory effect of IL-10 mediated by metabolic reprogramming of macrophages". Science (New York, N.Y.). 356 (6337): 513–519. doi:10.1126/science.aal3535. PMID 28473584. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Karin R. Engelhardt, Neil Shah, Intan Faizura-Yeop, Dilara F. Kocacik Uygun, Natalie Frede, Aleixo M. Muise, Eyal Shteyer, Serkan Filiz, Ronnie Chee, Mamoun Elawad, Britta Hartmann, Peter D. Arkwright, Christopher Dvorak, Christoph Klein, Jennifer M. Puck, Bodo Grimbacher & Erik-Oliver Glocker (2013). "Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation". The Journal of allergy and clinical immunology. 131 (3): 825–830. doi:10.1016/j.jaci.2012.09.025. PMID 23158016. Unknown parameter |month= ignored (help)
↑ Lei Zhu, Tingting Shi, Chengdi Zhong, Yingde Wang, Michael Chang & Xiuli Liu (2017). "IL-10 and IL-10 Receptor Mutations in Very Early Onset Inflammatory Bowel Disease". Gastroenterology research. 10 (2): 65–69. doi:10.14740/gr740w. PMID 28496525. Unknown parameter |month= ignored (help)
↑ Engelhardt, Karin R.; Shah, Neil; Faizura-Yeop, Intan; Kocacik Uygun, Dilara F.; Frede, Natalie; Muise, Aleixo M.; Shteyer, Eyal; Filiz, Serkan; Chee, Ronnie; Elawad, Mamoun; Hartmann, Britta; Arkwright, Peter D.; Dvorak, Christopher; Klein, Christoph; Puck, Jennifer M.; Grimbacher, Bodo; Glocker, Erik-Oliver (2013). "Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation". Journal of Allergy and Clinical Immunology. 131 (3): 825–830.e9. doi:10.1016/j.jaci.2012.09.025. ISSN 0091-6749.
↑ Karaca, Neslihan Edeer; Aksu, Guzide; Ulusoy, Ezgi; Aksoylar, Serap; Gozmen, Salih; Genel, Ferah; Akarcan, Sanem; Gulez, Nesrin; Hirschmugl, Tatjana; Kansoy, Savas; Boztug, Kaan; Kutukculer, Necil (2016). "Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases". Case Reports in Immunology. 2016: 1–5. doi:10.1155/2016/5459029. ISSN 2090-6609.
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Brigid S. Boland, Christella E. Widjaja, Asoka Banno, Bing Zhang, Stephanie H. Kim, Samantha Stoven, Michael R. Peterson, Marilyn C. Jones, H. Irene Su, Sheila E. Crowe, Jack D. Bui, Samuel B. Ho, Yoshinaga Okugawa, Ajay Goel, Eric V. Marietta, Mahdieh Khosroheidari, Kristen Jepsen, Jose Aramburu, Cristina Lopez-Rodriguez, William J. Sandborn, Joseph A. Murray, Olivier Harismendy & John T. Chang (2015). "Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency". Journal of immunology (Baltimore, Md. : 1950). 194 (6): 2551–2560. doi:10.4049/jimmunol.1401463. PMID 25667416. Unknown parameter |month= ignored (help)
↑ Boland, Brigid S.; Widjaja, Christella E.; Banno, Asoka; Zhang, Bing; Kim, Stephanie H.; Stoven, Samantha; Peterson, Michael R.; Jones, Marilyn C.; Su, H. Irene; Crowe, Sheila E.; Bui, Jack D.; Ho, Samuel B.; Okugawa, Yoshinaga; Goel, Ajay; Marietta, Eric V.; Khosroheidari, Mahdieh; Jepsen, Kristen; Aramburu, Jose; López-Rodríguez, Cristina; Sandborn, William J.; Murray, Joseph A.; Harismendy, Olivier; Chang, John T. (2015). "Immunodeficiency and Autoimmune Enterocolopathy Linked to NFAT5 Haploinsufficiency". The Journal of Immunology. 194 (6): 2551–2560. doi:10.4049/jimmunol.1401463. ISSN 0022-1767.
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ P. Peterson, J. Pitkanen, N. Sillanpaa & K. Krohn (2004). "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity". Clinical and experimental immunology. 135 (3): 348–357. PMID 15008965. Unknown parameter |month= ignored (help)
↑ P. Peterson, J. Pitkanen, N. Sillanpaa & K. Krohn (2004). "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity". Clinical and experimental immunology. 135 (3): 348–357. PMID 15008965. Unknown parameter |month= ignored (help)
↑ Choudhary Sonal, McLeod Michael, Torchia Daniele & Romanelli Paolo (2012). "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy". The Journal of clinical and aesthetic dermatology. 5 (12): 18–22. PMID 23277800. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Naomi J. Lohr, Jean P. Molleston, Kevin A. Strauss, Wilfredo Torres-Martinez, Eric A. Sherman, Robert H. Squires, Nicholas L. Rider, Kudakwashe R. Chikwava, Oscar W. Cummings, D. Holmes Morton & Erik G. Puffenberger (2010). "Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease". American journal of human genetics. 86 (3): 447–453. doi:10.1016/j.ajhg.2010.01.028. PMID 20170897. Unknown parameter |month= ignored (help)
↑ Naomi J. Lohr, Jean P. Molleston, Kevin A. Strauss, Wilfredo Torres-Martinez, Eric A. Sherman, Robert H. Squires, Nicholas L. Rider, Kudakwashe R. Chikwava, Oscar W. Cummings, D. Holmes Morton & Erik G. Puffenberger (2010). "Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease". American journal of human genetics. 86 (3): 447–453. doi:10.1016/j.ajhg.2010.01.028. PMID 20170897. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Haopeng Wang, Theresa A. Kadlecek, Byron B. Au-Yeung, Hanna E. Sjolin Goodfellow, Lih-Yun Hsu, Tanya S. Freedman & Arthur Weiss (2010). "ZAP-70: an essential kinase in T-cell signaling". Cold Spring Harbor perspectives in biology. 2 (5): a002279. doi:10.1101/cshperspect.a002279. PMID 20452964. Unknown parameter |month= ignored (help)
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↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
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↑ Wei Lu, Yu Zhang, David O. McDonald, Huie Jing, Bernadette Carroll, Nic Robertson, Qian Zhang, Helen Griffin, Sharon Sanderson, Jeremy H. Lakey, Neil V. Morgan, Louise N. Reynard, Lixin Zheng, Heardley M. Murdock, Stuart E. Turvey, Scott J. Hackett, Tim Prestidge, Julie M. Hall, Andrew J. Cant, Helen F. Matthews, Mauro F. Santibanez Koref, Anna Katharina Simon, Viktor I. Korolchuk, Michael J. Lenardo, Sophie Hambleton & Helen C. Su (2014). "Dual proteolytic pathways govern glycolysis and immune competence". Cell. 159 (7): 1578–1590. doi:10.1016/j.cell.2014.12.001. PMID 25525876. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ ^112.0 ^112.1 Del Bel, Kate L.; Ragotte, Robert J.; Saferali, Aabida; Lee, Susan; Vercauteren, Suzanne M.; Mostafavi, Sara A.; Schreiber, Richard A.; Prendiville, Julie S.; Phang, Min S.; Halparin, Jessica; Au, Nicholas; Dean, John M.; Priatel, John J.; Jewels, Emily; Junker, Anne K.; Rogers, Paul C.; Seear, Michael; McKinnon, Margaret L.; Turvey, Stuart E. (2017). "JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome". Journal of Allergy and Clinical Immunology. 139 (6): 2016–2020.e5. doi:10.1016/j.jaci.2016.12.957. ISSN 0091-6749.
↑ Marketa Bloomfield, Veronika Kanderova, Zuzana Parackova, Petra Vrabcova, Michael Svaton, Eva Fronkova, Martina Fejtkova, Radana Zachova, Michal Rataj, Irena Zentsova, Tomas Milota, Adam Klocperk, Tomas Kalina & Anna Sediva (2018). "Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation". Journal of clinical immunology. doi:10.1007/s10875-018-0519-6. PMID 29934865. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Carlos Ferreira & Heng Wang (1993). "Prolidase Deficiency". PMID 26110198.
↑ Carlos Ferreira & Heng Wang (1993). "Prolidase Deficiency". PMID 26110198.
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Queenie K.-G. Tan, Raymond J. Louie & John W. Sleasman (1993). "IPEX Syndrome". PMID 20301297.
↑ Queenie K.-G. Tan, Raymond J. Louie & John W. Sleasman (1993). "IPEX Syndrome". PMID 20301297.
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ L. Bezrodnik, M. S. Caldirola, A. G. Seminario, I. Moreira & M. I. Gaillard (2014). "Follicular bronchiolitis as phenotype associated with CD25 deficiency". Clinical and experimental immunology. 175 (2): 227–234. doi:10.1111/cei.12214. PMID 24116927. Unknown parameter |month= ignored (help)
↑ Caudy, Amy A.; Reddy, Sreelatha T.; Chatila, Talal; Atkinson, John P.; Verbsky, James W. (2007). "CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like syndrome, and defective IL-10 expression from CD4 lymphocytes". Journal of Allergy and Clinical Immunology. 119 (2): 482–487. doi:10.1016/j.jaci.2006.10.007. ISSN 0091-6749.
↑ N. Sharfe, H. K. Dadi, M. Shahar & C. M. Roifman (1997). "Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor". Proceedings of the National Academy of Sciences of the United States of America. 94 (7): 3168–3171. PMID 9096364. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ ^126.0 ^126.1 Lo, B.; Fritz, J. M.; Su, H. C.; Uzel, G.; Jordan, M. B.; Lenardo, M. J. (2016). "CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency". Blood. 128 (8): 1037–1042. doi:10.1182/blood-2016-04-712612. ISSN 0006-4971.
↑ Yuki Sato, Hiroki Kato, Risa Ebina-Shibuya, Ari Itoh-Nakadai, Ryuhei Okuyama & Kazuhiko Igarashi (2017). "Bach2 Controls Homeostasis of Eosinophils by Restricting the Type-2 Helper Function of T Cells". The Tohoku journal of experimental medicine. 241 (3): 175–182. doi:10.1620/tjem.241.175. PMID 28216546. Unknown parameter |month= ignored (help)
↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter |month= ignored (help)
↑ Behdad Afzali, Juha Gronholm, Jana Vandrovcova, Charlotte O'Brien, Hong-Wei Sun, Ine Vanderleyden, Fred P. Davis, Ahmad Khoder, Yu Zhang, Ahmed N. Hegazy, Alejandro V. Villarino, Ira W. Palmer, Joshua Kaufman, Norman R. Watts, Majid Kazemian, Olena Kamenyeva, Julia Keith, Anwar Sayed, Dalia Kasperaviciute, Michael Mueller, Jason D. Hughes, Ivan J. Fuss, Mohammed F. Sadiyah, Kim Montgomery-Recht, Joshua McElwee, Nicholas P. Restifo, Warren Strober, Michelle A. Linterman, Paul T. Wingfield, Holm H. Uhlig, Rahul Roychoudhuri, Timothy J. Aitman, Peter Kelleher, Michael J. Lenardo, John J. O'Shea, Nichola Cooper & Arian D. J. Laurence (2017). "BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency". Nature immunology. 18 (7): 813–823. doi:10.1038/ni.3753. PMID 28530713. Unknown parameter |month= ignored (help)
↑ Nakamura, Atsushi; Ebina-Shibuya, Risa; Itoh-Nakadai, Ari; Muto, Akihiko; Shima, Hiroki; Saigusa, Daisuke; Aoki, Junken; Ebina, Masahito; Nukiwa, Toshihiro; Igarashi, Kazuhiko (2013). "Transcription repressor Bach2 is required for pulmonary surfactant homeostasis and alveolar macrophage function". The Journal of Experimental Medicine. 210 (11): 2191–2204. doi:10.1084/jem.20130028. ISSN 0022-1007.

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@@ Line 4: / Line 4: @@
 ==Overview==
+Immune dysregulation involves a variety of subcategories including hemophagocytic lymphohistiocytosis, EBV-related dysregulation, and autoimmunity.
 ==Classification==
@@ Line 25: / Line 26: @@
 {{familytree | | | | |)| D01 |)| D02 | |)| D03 |)| D04 | |D01=Chediak Higashi Syndrome:LYST|D02=Perforin Deficiency(FHL2)|D03=RASGRP1 Deficiency|D04=XL,XLP1.SH2DIA }}
 {{familytree | | | | |!| | | |!| | | | |!| | | |!| | | | |}}
-{{familytree | | | | |)| E01 |)| E02 | |)| E03 |)| E04 | |E01=Griscelli Syndrome type2:RAB27a|E02=UNCBD/Munc13-4 deficiency(FHL3)|E03=CD70 Deficiency|E04=XL,XLP2,XIAP }}
+{{familytree | | | | |)| E01 |)| E02 | |)| E03 |)| E04 | |E01=Griscelli Syndrome type2:RAB27a|E02=UNC13D/Munc13-4 deficiency(FHL3)|E03=CD70 Deficiency|E04=XL,XLP2,XIAP }}
 {{familytree | | | | |!| | | |!| | | | |!| | | |!| | | | |}}
-{{familytree | | | | |)| F01 |)| F02 | |)| F03 |)| F04 | |F01=Hermansky Pudlak Syndrome type2:AP3B1|F02=Syntaxin II Deficiency(FHL4)|F03=CTPS1 Deficiency|F04=AR, CD27 Deficiency }}
+{{familytree | | | | |)| F01 |)| F02 | |)| F03 |)| F04 | |F01=Hermansky Pudlak Syndrome type2:AP3B1|F02=Syntaxin 11 Deficiency(FHL4)|F03=CTPS1 Deficiency|F04=AR, CD27 Deficiency }}
 {{familytree | | | | |!| | | |!| | | | |!| | | |!| | | | |}}
 {{familytree | | | | |`| G01 |`| G02 | |)| G03 |`| G04 | |G01=Hermansky Pudlak Syndrome type10|G02=STXBP2/Munc18-2 Deficiency|G03=RLTPR (CARMIL2) Deficiency|G04=FAAP24 Deficiency }}
@@ Line 45: / Line 46: @@
 {{familytree | | | | | B01 | | | | | | | | B02 | | | | | | | |B01=Syndromes with Autoimmunity|B02=Immune Dysregulation with Colitis:<br>IBD, Normal Tc & Bc }}
 {{familytree | | | | | |!| | | |,|-|-|-|-|-|^|-|v|-|-|-|.| | |}}
-{{familytree | | | | | C01 | | C02 | | C03 | | C04 | | C05 | |C01=Increased CD4-CD8-TCR alpha/beta (Double Negative T cells)|C02=IL10 Deficiency, IL10, AR|C03=IL10Ra Deficiency, IL10RA, AR|C04=IL10Rb Deficiency, IL10RB, RA|C05=NFATS haploinsufficiency, NAFTS, AD }}
+{{familytree | | | | | C01 | | C02 | | C03 | | C04 | | C05 | |C01=Increased CD4-CD8-TCR alpha/beta (Double Negative T cells)|C02=IL10 Deficiency, IL10, AR|C03=IL10Ra Deficiency, IL10RA, AR|C04=IL10Rb Deficiency, IL10RB, RA|C05=NFAT5 haploinsufficiency, NAFTS, AD }}
 {{familytree | | | | | |!| | | | | | | | | | | | | | | | | | |}}
 {{familytree | |,|-|-|-|+|-|-|-|-|-|-|-|-|.| | | | | | | | | |}}
@@ Line 66: / Line 67: @@
 <br>
 ==Chediak Higashi Syndrome==
-* Chediak Higashi syndrome is caused by [[homozygous]] or compound heterogenous [[autosomal recessive]] [[mutation]] in the [[Lysosome|lysosomal]] trafficking [[gene]] (LYST:606897) on [[chromosome]] 1q42.<ref>{{Cite journal
+* [[Chediak Higashi syndrome]] is caused by [[homozygous]] or compound heterogenous [[autosomal recessive]] [[mutation]] in the [[Lysosome|lysosomal]] trafficking [[gene]] (LYST) on [[chromosome 1|chromosome1q42]].<ref>{{Cite journal
   | author = [[M. D. Barbosa]], [[Q. A. Nguyen]], [[V. T. Tchernev]], [[J. A. Ashley]], [[J. C. Detter]], [[S. M. Blaydes]], [[S. J. Brandt]], [[D. Chotai]], [[C. Hodgman]], [[R. C. Solari]], [[M. Lovett]] & [[S. F. Kingsmore]]
   | title = Identification of the homologous beige and Chediak-Higashi syndrome genes
@@ Line 78: / Line 79: @@
   | pmid = 8717042
 }}</ref>
-* It is characterized by [[photophobia]], [[nystagmus]], [[Albinism|partial albinism]], [[neutropenia]], abnormal susceptibility to [[Infection|infections]] and [[Lymphoma (patient information)|malignant lymphoma]], large [[Eosinophil granulocyte|eosinophilic]] [[peroxidase]] positive inclusion bosides in [[Myeloblast|myeloblasts]] and [[Promyelocyte|promyelocytes]] of [[bone marrow]].
+* It is characterized by [[photophobia]], [[nystagmus]], [[Albinism|partial albinism]], [[neutropenia]], abnormal susceptibility to [[Infection|infections]] and [[Lymphoma (patient information)|malignant lymphoma]], large [[Eosinophil granulocyte|eosinophilic]] [[peroxidase]] positive [[inclusion bodies]] in [[Myeloblast|myeloblasts]] and [[Promyelocyte|promyelocytes]] of [[bone marrow]].<ref name="KaplanDe Domenico2008">{{cite journal|last1=Kaplan|first1=Jerry|last2=De Domenico|first2=Ivana|last3=Ward|first3=Diane McVey|title=Chediak-Higashi syndrome|journal=Current Opinion in Hematology|volume=15|issue=1|year=2008|pages=22–29|issn=1065-6251|doi=10.1097/MOH.0b013e3282f2bcce}}</ref>
-* The most effective treatment is [[Stem cell transplantation|hematopoeitic stem cell transplantation]].
+* The most effective treatment is [[Stem cell transplantation|hematopoeitic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[M. Eapen]], [[C. A. DeLaat]], [[K. S. Baker]], [[M. S. Cairo]], [[M. J. Cowan]], [[J. Kurtzberg]], [[C. G. Steward]], [[P. A. Veys]] & [[A. H. Filipovich]]
+ | title = Hematopoietic cell transplantation for Chediak-Higashi syndrome
+ | journal = [[Bone marrow transplantation]]
+ | volume = 39
+ | issue = 7
+ | pages = 411–415
+ | year = 2007
+ | month = April
+ | doi = 10.1038/sj.bmt.1705600
+ | pmid = 17293882
+}}</ref>
 * For more information on Chediak Higashi syndrome, [[Chediak-Higashi Syndrome|click here]].
 ==Griscelli Syndrome type 2==
-*
+* Griscelli syndrome type 2 is a rare [[autosomal recessive]] disease caused by [[mutation]] in the RAB27A [[gene]]. <ref>{{Cite journal
-*
+ | author = [[Kirtisudha Mishra]], [[Shilpy Singla]], [[Suvasini Sharma]], [[Renu Saxena]] & [[Vineeta Vijay Batra]]
-*
+ | title = Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum
+ | journal = [[Korean journal of pediatrics]]
+ | volume = 57
+ | issue = 2
+ | pages = 91–95
+ | year = 2014
+ | month = February
+ | doi = 10.3345/kjp.2014.57.2.91
+ | pmid = 24678334
+}}</ref>
+* It is characterized by [[Albinism|partial albinism]], [[immunodeficiency]], [[organomegaly]] and accelerated phases which includes [[hemophagocytosis]], [[pancytopenia]] and [[neurological deterioration]].<ref>{{Cite journal
+ | author = [[I. P. Meschede]], [[T. O. Santos]], [[T. C. Izidoro-Toledo]], [[J. Gurgel-Gianetti]] & [[E. M. Espreafico]]
+ | title = Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure
+ | journal = [[Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas]]
+ | volume = 41
+ | issue = 10
+ | pages = 839–848
+ | year = 2008
+ | month = October
+ | pmid = 19030707
+}}</ref>
+* The only curative treatment is [[Stem cell transplantation|hematopoeitic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Amira Masri]], [[Faris G. Bakri]], [[Maissa Al-Hussaini]], [[Azmy Al-Hadidy]], [[Rania Hirzallah]], [[Genevieve de Saint Basile]] & [[Hanan Hamamy]]
+ | title = Griscelli syndrome type 2: a rare and lethal disorder
+ | journal = [[Journal of child neurology]]
+ | volume = 23
+ | issue = 8
+ | pages = 964–967
+ | year = 2008
+ | month = August
+ | doi = 10.1177/0883073808315409
+ | pmid = 18403584
+}}</ref>
+==Hermansky Pudlak Syndrome type 2==
+* Hermansky pudlak syndrome type 2 is caused by [[homozygous]] or compound [[heterogenous]] [[autosomal recessive]] mutation in the gene encoding the beta-3A subunit of AP3 complex (AP3B1) on [[chromosome]] 5q14.<ref name="Jung2006">{{cite journal|last1=Jung|first1=J.|title=Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2|journal=Blood|volume=108|issue=1|year=2006|pages=362–369|issn=0006-4971|doi=10.1182/blood-2005-11-4377}}</ref>
+* It is characterized by [[platelet]] defects, oculocutaneous [[albinism]], [[immunodeficiency]], [[congenital]] [[neutropenia]] and [[pulmonary fibrosis]].<ref name="Jung2006">{{cite journal|last1=Jung|first1=J.|title=Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2|journal=Blood|volume=108|issue=1|year=2006|pages=362–369|issn=0006-4971|doi=10.1182/blood-2005-11-4377}}</ref>
+* Treatment includes chronic [[antibiotic]] [[therapy]] and [[granulocyte colony stimulating factor|granulocyte colony stimulating factor (G-CSF)]] because of [[neutropenia]] and management of complications as they arise.<ref name="HengstNaehrlich2018">{{cite journal|last1=Hengst|first1=Meike|last2=Naehrlich|first2=Lutz|last3=Mahavadi|first3=Poornima|last4=Grosse-Onnebrink|first4=Joerg|last5=Terheggen-Lagro|first5=Suzanne|last6=Skanke|first6=Lars Høsøien|last7=Schuch|first7=Luise A.|last8=Brasch|first8=Frank|last9=Guenther|first9=Andreas|last10=Reu|first10=Simone|last11=Ley-Zaporozhan|first11=Julia|last12=Griese|first12=Matthias|title=Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood|journal=Orphanet Journal of Rare Diseases|volume=13|issue=1|year=2018|issn=1750-1172|doi=10.1186/s13023-018-0780-z}}</ref>
+== Hermansky Pudlak Syndrome type 10==
+* [[Hermansky-Pudlak syndrome|Hermansky pudlak syndrome type 10]] is caused by an [[autosomal recessive]] [[mutation]] in AP3D1 [[gene]] on [[chromosome 19|chromosome 19p13]].<ref name="AmmannSchulz2016">{{cite journal|last1=Ammann|first1=S.|last2=Schulz|first2=A.|last3=Krageloh-Mann|first3=I.|last4=Dieckmann|first4=N. M. G.|last5=Niethammer|first5=K.|last6=Fuchs|first6=S.|last7=Eckl|first7=K. M.|last8=Plank|first8=R.|last9=Werner|first9=R.|last10=Altmuller|first10=J.|last11=Thiele|first11=H.|last12=Nurnberg|first12=P.|last13=Bank|first13=J.|last14=Strauss|first14=A.|last15=von Bernuth|first15=H.|last16=zur Stadt|first16=U.|last17=Grieve|first17=S.|last18=Griffiths|first18=G. M.|last19=Lehmberg|first19=K.|last20=Hennies|first20=H. C.|last21=Ehl|first21=S.|title=Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome|journal=Blood|volume=127|issue=8|year=2016|pages=997–1006|issn=0006-4971|doi=10.1182/blood-2015-09-671636}}</ref>
+* It is characterized by [[immunodeficiency]], [[albinism|oculocutaneous albinism]] and severe neurological impairment including severely delayed global development and intractable [[seizures]].<ref name="AmmannSchulz2016">{{cite journal|last1=Ammann|first1=S.|last2=Schulz|first2=A.|last3=Krageloh-Mann|first3=I.|last4=Dieckmann|first4=N. M. G.|last5=Niethammer|first5=K.|last6=Fuchs|first6=S.|last7=Eckl|first7=K. M.|last8=Plank|first8=R.|last9=Werner|first9=R.|last10=Altmuller|first10=J.|last11=Thiele|first11=H.|last12=Nurnberg|first12=P.|last13=Bank|first13=J.|last14=Strauss|first14=A.|last15=von Bernuth|first15=H.|last16=zur Stadt|first16=U.|last17=Grieve|first17=S.|last18=Griffiths|first18=G. M.|last19=Lehmberg|first19=K.|last20=Hennies|first20=H. C.|last21=Ehl|first21=S.|title=Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome|journal=Blood|volume=127|issue=8|year=2016|pages=997–1006|issn=0006-4971|doi=10.1182/blood-2015-09-671636}}</ref>
+* Treatment depends upon the manifestations of disease, [[granulocyte colony stimulating factor|granulocyte-colony stimulating factor (G-CSF)]] used when [[immunodeficiency]] is present.<ref>{{cite journal|doi=10.1111/pde.13266. Epub 2017 Oct 16.}}</ref>
+==Perforin Deficiency==
+* [[Perforin]] is a [[glycoprotein]] responsible for pore formation in [[cell membrane|cell membranes]] of target [[cell|cells]]. The main source of [[perforin]] are [[natural killer cell|natural killer (NK) cells]] and [[CD8]] positive [[t cell|T cells]]. A low amount of [[perforin]] is also expressed by [[CD4]] positive [[t cell|T cells]].<ref>{{Cite journal
+ | author = [[Iwona Osinska]], [[Katarzyna Popko]] & [[Urszula Demkow]]
+ | title = Perforin: an important player in immune response
+ | journal = [[Central-European journal of immunology]]
+ | volume = 39
+ | issue = 1
+ | pages = 109–115
+ | year = 2014
+ | month =
+ | doi = 10.5114/ceji.2014.42135
+ | pmid = 26155110
+}}</ref>
+* Diseases associated with [[perforin]] deficiency/defect include: [[hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis (HLH)]], [[leukemia|leukemias]], [[lymphoma|lymphomas]], [[infection|infectious diseases]] and [[autoimmune disease|autoimmune diseases]].<ref>{{Cite journal
+ | author = [[Iwona Osinska]], [[Katarzyna Popko]] & [[Urszula Demkow]]
+ | title = Perforin: an important player in immune response
+ | journal = [[Central-European journal of immunology]]
+ | volume = 39
+ | issue = 1
+ | pages = 109–115
+ | year = 2014
+ | month =
+ | doi = 10.5114/ceji.2014.42135
+ | pmid = 26155110
+}}</ref>
+* Treatment depends upon the presentation of [[disease]].<ref>{{Cite journal
+ | author = [[Iwona Osinska]], [[Katarzyna Popko]] & [[Urszula Demkow]]
+ | title = Perforin: an important player in immune response
+ | journal = [[Central-European journal of immunology]]
+ | volume = 39
+ | issue = 1
+ | pages = 109–115
+ | year = 2014
+ | month =
+ | doi = 10.5114/ceji.2014.42135
+ | pmid = 26155110
+}}</ref>
+==UNC13D/Munc13-4 Deficiency==
+* [[UNC13D|Munc13-4]] is a [[RAB27A]] effector that coordinates [[exocytosis]] in [[hematopoietic cells]], its deficiency is associated with human [[immunodeficiency]] familial [[hemophagocytic lymphohistiocytosis]] type 3.<ref>{{Cite journal
+ | author = [[Jlenia Monfregola]], [[Jennifer Linda Johnson]], [[Michael M. Meijler]], [[Gennaro Napolitano]] & [[Sergio Daniel Catz]]
+ | title = MUNC13-4 protein regulates the oxidative response and is essential for phagosomal maturation and bacterial killing in neutrophils
+ | journal = [[The Journal of biological chemistry]]
+ | volume = 287
+ | issue = 53
+ | pages = 44603–44618
+ | year = 2012
+ | month = December
+ | doi = 10.1074/jbc.M112.414029
+ | pmid = 23115246
+}}</ref>
+* It is characterized by the features of [[hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis (HLH)]] including; [[fever]], [[hepatosplenomegaly]] and [[cytopenias]].<ref>{{Cite journal
+ | author = [[A. Santoro]], [[S. Cannella]], [[G. Bossi]], [[F. Gallo]], [[A. Trizzino]], [[D. Pende]], [[F. Dieli]], [[G. Bruno]], [[J. C. Stinchcombe]], [[C. Micalizzi]], [[C. De Fusco]], [[C. Danesino]], [[L. Moretta]], [[L. D. Notarangelo]], [[G. M. Griffiths]] & [[M. Arico]]
+ | title = Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
+ | journal = [[Journal of medical genetics]]
+ | volume = 43
+ | issue = 12
+ | pages = 953–960
+ | year = 2006
+ | month = December
+ | doi = 10.1136/jmg.2006.041863
+ | pmid = 16825436
+}}</ref>
+* The only curative treatment is [[stem cell transplantation|allogenic hematopoietic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Tayebeh Soheili]], [[Amandine Durand]], [[Fernando E. Sepulveda]], [[Julie Riviere]], [[Chantal Lagresle-Peyrou]], [[Hanem Sadek]], [[Genevieve de Saint Basile]], [[Samia Martin]], [[Fulvio Mavilio]], [[Marina Cavazzana]] & [[Isabelle Andre-Schmutz]]
+ | title = Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency
+ | journal = [[Blood advances]]
+ | volume = 1
+ | issue = 27
+ | pages = 2781–2789
+ | year = 2017
+ | month = December
+ | doi = 10.1182/bloodadvances.2017012088
+ | pmid = 29296930
+}}</ref>
+==Syntaxin 11 Deficiency==
+* [[syntaxin|Syntaxin 11]] deficiency is caused by [[homozygous]] [[mutation]] in the [[syntaxin|syntaxin 11]] [[gene]] located on [[chromosome 6|chromosome 6q24]].<ref>{{Cite journal
+ | author = [[Valentina Cetica]], [[Daniela Pende]], [[Gillian M. Griffiths]] & [[Maurizio Arico]]
+ | title = Molecular basis of familial hemophagocytic lymphohistiocytosis
+ | journal = [[Haematologica]]
+ | volume = 95
+ | issue = 4
+ | pages = 538–541
+ | year = 2010
+ | month = April
+ | doi = 10.3324/haematol.2009.019562
+ | pmid = 20378576
+}}</ref>
+* [[syntaxin|Syntaxin 11]] deficiency patients develop [[hemophagocytic lymphohistiocytosis|familial hemophagocytic lymphohistiocytosis 4(FHL4)]], characterized by [[fever]], [[splenomegaly]], [[bicytopenia]], [[natural killer cell|low/absent natural killer (NK) cell]] activity and increased [[ferritin]].<ref>{{Cite journal
+ | author = [[Tamara Kogl]], [[Jurgen Muller]], [[Birthe Jessen]], [[Annette Schmitt-Graeff]], [[Gritta Janka]], [[Stephan Ehl]], [[Udo zur Stadt]] & [[Peter Aichele]]
+ | title = Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease
+ | journal = [[Blood]]
+ | volume = 121
+ | issue = 4
+ | pages = 604–613
+ | year = 2013
+ | month = January
+ | doi = 10.1182/blood-2012-07-441139
+ | pmid = 23190531
+}}</ref>
+* The only treatment available is [[stem cell transplantation|hematopoietic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Martha-Lena Muller]], [[Samuel C. C. Chiang]], [[Marie Meeths]], [[Bianca Tesi]], [[Miriam Entesarian]], [[Daniel Nilsson]], [[Stephanie M. Wood]], [[Magnus Nordenskjold]], [[Jan-Inge Henter]], [[Ahmed Naqvi]] & [[Yenan T. Bryceson]]
+ | title = An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2
+ | journal = [[Frontiers in immunology]]
+ | volume = 4
+ | pages = 515
+ | year = 2014
+ | month = January
+ | doi = 10.3389/fimmu.2013.00515
+ | pmid = 24459464
+}}</ref>
+==STXBP2/Munc18-2 Deficiency==
+* STXBP2/Munc18-2 deficiency is caused by [[homozygous]] or compound [[heterogenous]] [[mutation]] in the [[syntaxin]] binding [[protein]]-2 [[gene]] (STXBP-2) on [[chromosome 19|chromosome 19p13]]. <ref>{{Cite journal
+ | author = [[Udo zur Stadt]], [[Jan Rohr]], [[Wenke Seifert]], [[Florian Koch]], [[Samantha Grieve]], [[Julia Pagel]], [[Julia Strauss]], [[Brigitte Kasper]], [[Gudrun Nurnberg]], [[Christian Becker]], [[Andrea Maul-Pavicic]], [[Karin Beutel]], [[Gritta Janka]], [[Gillian Griffiths]], [[Stephan Ehl]] & [[Hans Christian Hennies]]
+ | title = Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11
+ | journal = [[American journal of human genetics]]
+ | volume = 85
+ | issue = 4
+ | pages = 482–492
+ | year = 2009
+ | month = October
+ | doi = 10.1016/j.ajhg.2009.09.005
+ | pmid = 19804848
+}}</ref>
+* STXBP2 deficiency causes [[hemophagocytic lymphohistiocytosis|familial hemophagocytic lymphohistiocytosis 5(FHL5)]], characterized by [[fever]], [[hepatosplenomegaly]], [[bicytopenia]], increased [[triglycerides]] and [[ferritin]] with some atypical features including [[sensorineural hearing loss|sensorineural hearing deficit]], abnormal [[bleeding]], or severe [[diarrhea]].<ref>{{Cite journal
+ | author = [[Julia Pagel]], [[Karin Beutel]], [[Kai Lehmberg]], [[Florian Koch]], [[Andrea Maul-Pavicic]], [[Anna-Katharina Rohlfs]], [[Abdullah Al-Jefri]], [[Rita Beier]], [[Lilian Bomme Ousager]], [[Karoline Ehlert]], [[Ute Gross-Wieltsch]], [[Norbert Jorch]], [[Bernhard Kremens]], [[Arnulf Pekrun]], [[Monika Sparber-Sauer]], [[Ester Mejstrikova]], [[Angela Wawer]], [[Stephan Ehl]], [[Udo zur Stadt]] & [[Gritta Janka]]
+ | title = Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
+ | journal = [[Blood]]
+ | volume = 119
+ | issue = 25
+ | pages = 6016–6024
+ | year = 2012
+ | month = June
+ | doi = 10.1182/blood-2011-12-398958
+ | pmid = 22451424
+}}</ref>
+* Treatment involves; [[immunosuppression|immunosuppressive]] and modulatory agents, management of complications and [[hematopoietic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Melissa R. George]]
+ | title = Hemophagocytic lymphohistiocytosis: review of etiologies and management
+ | journal = [[Journal of blood medicine]]
+ | volume = 5
+ | pages = 69–86
+ | year = 2014
+ | month =
+ | doi = 10.2147/JBM.S46255
+ | pmid = 24966707
+}}</ref>
+==RASGRP1 Deficiency==
+* [[RASGRP1]] is an important [[guanine]] [[nucleotide]] exchange factor and activator of RAS-MAPK pathway following [[T cell]] [[antigen]] [[receptor]] (TCR) signaling.<ref>{{Cite journal
+ | author = [[Elisabeth Salzer]], [[Deniz Cagdas]], [[Miroslav Hons]], [[Emily M. Mace]], [[Wojciech Garncarz]], [[Ozlem Yuce Petronczki]], [[Rene Platzer]], [[Laurene Pfajfer]], [[Ivan Bilic]], [[Sol A. Ban]], [[Katharina L. Willmann]], [[Malini Mukherjee]], [[Verena Supper]], [[Hsiang Ting Hsu]], [[Pinaki P. Banerjee]], [[Papiya Sinha]], [[Fabienne McClanahan]], [[Gerhard J. Zlabinger]], [[Winfried F. Pickl]], [[John G. Gribben]], [[Hannes Stockinger]], [[Keiryn L. Bennett]], [[Johannes B. Huppa]], [[Loic Dupre]], [[Ozden Sanal]], [[Ulrich Jager]], [[Michael Sixt]], [[Ilhan Tezcan]], [[Jordan S. Orange]] & [[Kaan Boztug]]
+ | title = RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics
+ | journal = [[Nature immunology]]
+ | volume = 17
+ | issue = 12
+ | pages = 1352–1360
+ | year = 2016
+ | month = December
+ | doi = 10.1038/ni.3575
+ | pmid = 27776107
+}}</ref>
+* [[RASGRP1]] deficiency is caused by a [[mutation]] in [[RASGRP1]] [[gene]] located on [[chromosome 15|chromosome 15q14]].<ref>{{Cite journal
+ | author = [[Elisabeth Salzer]], [[Deniz Cagdas]], [[Miroslav Hons]], [[Emily M. Mace]], [[Wojciech Garncarz]], [[Ozlem Yuce Petronczki]], [[Rene Platzer]], [[Laurene Pfajfer]], [[Ivan Bilic]], [[Sol A. Ban]], [[Katharina L. Willmann]], [[Malini Mukherjee]], [[Verena Supper]], [[Hsiang Ting Hsu]], [[Pinaki P. Banerjee]], [[Papiya Sinha]], [[Fabienne McClanahan]], [[Gerhard J. Zlabinger]], [[Winfried F. Pickl]], [[John G. Gribben]], [[Hannes Stockinger]], [[Keiryn L. Bennett]], [[Johannes B. Huppa]], [[Loic Dupre]], [[Ozden Sanal]], [[Ulrich Jager]], [[Michael Sixt]], [[Ilhan Tezcan]], [[Jordan S. Orange]] & [[Kaan Boztug]]
+ | title = RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics
+ | journal = [[Nature immunology]]
+ | volume = 17
+ | issue = 12
+ | pages = 1352–1360
+ | year = 2016
+ | month = December
+ | doi = 10.1038/ni.3575
+ | pmid = 27776107
+}}</ref>
+* [[RASGRP1]] deficiency causes severe [[autoimmune]] manifestations, life threatening immune dysregulation and susceptibility to [[EBV]] induced [[B cell]] [[malignancy|malignancies]].<ref>{{Cite journal
+ | author = [[Ido Somekh]], [[Benjamin Marquardt]], [[Yanshan Liu]], [[Meino Rohlfs]], [[Sebastian Hollizeck]], [[Musa Karakukcu]], [[Ekrem Unal]], [[Ebru Yilmaz]], [[Turkan Patiroglu]], [[Murat Cansever]], [[Shirly Frizinsky]], [[Vicktoria Vishnvenska-Dai]], [[Erez Rechavi]], [[Tali Stauber]], [[Amos J. Simon]], [[Atar Lev]], [[Christoph Klein]], [[Daniel Kotlarz]] & [[Raz Somech]]
+ | title = Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma
+ | journal = [[Journal of clinical immunology]]
+ | volume = 38
+ | issue = 6
+ | pages = 699–710
+ | year = 2018
+ | month = August
+ | doi = 10.1007/s10875-018-0533-8
+ | pmid = 30030704
+}}</ref>
+* Early [[diagnosis]] is important in management and [[hematopoietic stem cell transplantation]] is considered curative.<ref>{{Cite journal
+ | author = [[Ido Somekh]], [[Benjamin Marquardt]], [[Yanshan Liu]], [[Meino Rohlfs]], [[Sebastian Hollizeck]], [[Musa Karakukcu]], [[Ekrem Unal]], [[Ebru Yilmaz]], [[Turkan Patiroglu]], [[Murat Cansever]], [[Shirly Frizinsky]], [[Vicktoria Vishnvenska-Dai]], [[Erez Rechavi]], [[Tali Stauber]], [[Amos J. Simon]], [[Atar Lev]], [[Christoph Klein]], [[Daniel Kotlarz]] & [[Raz Somech]]
+ | title = Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma
+ | journal = [[Journal of clinical immunology]]
+ | volume = 38
+ | issue = 6
+ | pages = 699–710
+ | year = 2018
+ | month = August
+ | doi = 10.1007/s10875-018-0533-8
+ | pmid = 30030704
+}}</ref>
+==CD70 Deficiency==
+* [[CD70]] [[gene]] is located on [[chromosome 19|chromosome 19p13.3]]. The [[protein]] encoded by this [[gene]] is a [[cytokine]] that belongs to [[TNF]] [[ligand]] family. This [[cytokine]] is a [[ligand]] for TNFRSF27/[[CD27]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[CD70]] is a surface [[antigen]] located on activated, but not resting, T and B [[lymphocytes]]. It induces proliferation of costimulated [[T cells]], enhances generation of [[cytotoxic T cells]] and contributes to [[T cell]] activation.<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* Its deficiency causes combined [[immunodeficiency|immunodeficiencies]] and [[EBV]] associated [[lymphoproliferation]].<ref>{{Cite journal
+ | author = [[Hassan Abolhassani]], [[Emily S. J. Edwards]], [[Aydan Ikinciogullari]], [[Huie Jing]], [[Stephan Borte]], [[Marcus Buggert]], [[Likun Du]], [[Mami Matsuda-Lennikov]], [[Rosa Romano]], [[Rozina Caridha]], [[Sangeeta Bade]], [[Yu Zhang]], [[Juliet Frederiksen]], [[Mingyan Fang]], [[Sevgi Kostel Bal]], [[Sule Haskologlu]], [[Figen Dogu]], [[Nurdan Tacyildiz]], [[Helen F. Matthews]], [[Joshua J. McElwee]], [[Emma Gostick]], [[David A. Price]], [[Umaimainthan Palendira]], [[Asghar Aghamohammadi]], [[Bertrand Boisson]], [[Nima Rezaei]], [[Annika C. Karlsson]], [[Michael J. Lenardo]], [[Jean-Laurent Casanova]], [[Lennart Hammarstrom]], [[Stuart G. Tangye]], [[Helen C. Su]] & [[Qiang Pan-Hammarstrom]]
+ | title = Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency
+ | journal = [[The Journal of experimental medicine]]
+ | volume = 214
+ | issue = 1
+ | pages = 91–106
+ | year = 2017
+ | month = January
+ | doi = 10.1084/jem.20160849
+ | pmid = 28011864
+}}</ref>
+* The treatment includes; immunosuppressive drugs like [[rituximab]] and [[hematopoietic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Roberta Caorsi]], [[Marta Rusmini]], [[Stefano Volpi]], [[Sabrina Chiesa]], [[Claudia Pastorino]], [[Angela Rita Sementa]], [[Paolo Uva]], [[Alice Grossi]], [[Edoardo Lanino]], [[Maura Faraci]], [[Francesca Minoia]], [[Sara Signa]], [[Paolo Picco]], [[Alberto Martini]], [[Isabella Ceccherini]] & [[Marco Gattorno]]
+ | title = CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever
+ | journal = [[Frontiers in immunology]]
+ | volume = 8
+ | pages = 2015
+ | year = 2017
+ | month =
+ | doi = 10.3389/fimmu.2017.02015
+ | pmid = 29434583
+}}</ref>
+==CTPS1 Deficiency==
+* CTPS1 [[gene]] is located on [[chromosome 1|chromosome 1p34.2]]. It encodes an [[enzyme]] responsible for [[catalysis|catalytic]] conversion of [[uridine triphosphate|UTP (uridine triphosphate)]] to [[cytidine triphosphate|CTP (cytidine triphosphate)]]; which is an important step in the biosynthesis of [[phospholipids]] and [[nucleic acids]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* CTPS1 deficiency is caused by loss of function [[mutation]] in the [[gene]], that causes life threatening [[immunodeficiency]] characterized by impaired capacity of activated [[b cell|B]] and [[t cell|T cells]] to [[proliferate]] in response to [[antigen]] [[receptor]] mediated activation.<ref name="MartinPalmic2014">{{cite journal|last1=Martin|first1=Emmanuel|last2=Palmic|first2=Noé|last3=Sanquer|first3=Sylvia|last4=Lenoir|first4=Christelle|last5=Hauck|first5=Fabian|last6=Mongellaz|first6=Cédric|last7=Fabrega|first7=Sylvie|last8=Nitschké|first8=Patrick|last9=Esposti|first9=Mauro Degli|last10=Schwartzentruber|first10=Jeremy|last11=Taylor|first11=Naomi|last12=Majewski|first12=Jacek|last13=Jabado|first13=Nada|last14=Wynn|first14=Robert F.|last15=Picard|first15=Capucine|last16=Fischer|first16=Alain|last17=Arkwright|first17=Peter D.|last18=Latour|first18=Sylvain|title=CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation|journal=Nature|volume=510|issue=7504|year=2014|pages=288–292|issn=0028-0836|doi=10.1038/nature13386}}</ref>
+* Treatment includes; management of compplications and [[hematopoietic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Robert F. Wynn]], [[Peter D. Arkwright]], [[Tanzina Haque]], [[Maged I. Gharib]], [[Gwen Wilkie]], [[Marie Morton-Jones]] & [[Dorothy H. Crawford]]
+ | title = Treatment of Epstein-Barr-virus-associated primary CNS B cell lymphoma with allogeneic T-cell immunotherapy and stem-cell transplantation
+ | journal = [[The Lancet. Oncology]]
+ | volume = 6
+ | issue = 5
+ | pages = 344–346
+ | year = 2005
+ | month = May
+ | doi = 10.1016/S1470-2045(05)70171-6
+ | pmid = 15863383
+}}</ref>
+==RLTPR (CARMIL2) Deficiency==
+* CARMIL2 [[gene]] is located on [[chromosome 16|chromosome 16q22.1]], which encodes a member of CARMIL (capping [[protein]], Arp 2/3, [[myosin]]-I linker) family of [[proteins]].The encoded [[protein]] interacts with & negatively regulates the heterodimeric capping [[protein]] and promotes [[cell]] migration. <ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* CARMIL2 deficiency is associated with [[autosomal recessive]] human [[immunodeficiency]] disorder, resulting in defective [[CD28]] cosignalling and inadequate [[T cell]] activation, proliferation, differentiation, effector function and [[T cell]] polarity and migration.<ref>{{Cite journal
+ | author = [[T. Schober]], [[T. Magg]], [[M. Laschinger]], [[M. Rohlfs]], [[N. D. Linhares]], [[J. Puchalka]], [[T. Weisser]], [[K. Fehlner]], [[J. Mautner]], [[C. Walz]], [[K. Hussein]], [[G. Jaeger]], [[B. Kammer]], [[I. Schmid]], [[M. Bahia]], [[S. D. Pena]], [[U. Behrends]], [[B. H. Belohradsky]], [[C. Klein]] & [[F. Hauck]]
+ | title = A human immunodeficiency syndrome caused by mutations in CARMIL2
+ | journal = [[Nature communications]]
+ | volume = 8
+ | pages = 14209
+ | year = 2017
+ | month = January
+ | doi = 10.1038/ncomms14209
+ | pmid = 28112205
+}}</ref>
+* It can present as [[failure to thrive]], [[chronic diarrhea]], recurrent [[skin]] and [[upper airway]] [[infection|infections]] and [[psoriasis]].<ref>{{Cite journal
+ | author = [[T. Schober]], [[T. Magg]], [[M. Laschinger]], [[M. Rohlfs]], [[N. D. Linhares]], [[J. Puchalka]], [[T. Weisser]], [[K. Fehlner]], [[J. Mautner]], [[C. Walz]], [[K. Hussein]], [[G. Jaeger]], [[B. Kammer]], [[I. Schmid]], [[M. Bahia]], [[S. D. Pena]], [[U. Behrends]], [[B. H. Belohradsky]], [[C. Klein]] & [[F. Hauck]]
+ | title = A human immunodeficiency syndrome caused by mutations in CARMIL2
+ | journal = [[Nature communications]]
+ | volume = 8
+ | pages = 14209
+ | year = 2017
+ | month = January
+ | doi = 10.1038/ncomms14209
+ | pmid = 28112205
+}}</ref>
+==ITK Deficiency==
+* ITK ([[Interleukin 2]] inducible [[T cell]] [[Kinase]]) [[gene]] is located [[chromosome 5|chromosome 5q33.3]], encodes an [[intracellular]] [[tyrosine kinase]] expressed in [[T cells]]. It helps in [[T cell]] [[proliferation]] and differentiation.<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* It can present as [[fever]], [[lymphadenopathy]], [[hepatosplenomegaly]], [[pulmonary]] involvement, [[T cell]] depletion and [[hypogammaglobulinemia]].<ref>{{Cite journal
+ | author = [[Sujal Ghosh]], [[Kirsten Bienemann]], [[Kaan Boztug]] & [[Arndt Borkhardt]]
+ | title = Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects
+ | journal = [[Journal of clinical immunology]]
+ | volume = 34
+ | issue = 8
+ | pages = 892–899
+ | year = 2014
+ | month = November
+ | doi = 10.1007/s10875-014-0110-8
+ | pmid = 25339095
+}}</ref>
+* Treatment options include; [[rituximab]], [[IgG]] susbstitution and [[hematopoietic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Sujal Ghosh]], [[Kirsten Bienemann]], [[Kaan Boztug]] & [[Arndt Borkhardt]]
+ | title = Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects
+ | journal = [[Journal of clinical immunology]]
+ | volume = 34
+ | issue = 8
+ | pages = 892–899
+ | year = 2014
+ | month = November
+ | doi = 10.1007/s10875-014-0110-8
+ | pmid = 25339095
+}}</ref>
+==MAGT1 Deficiency==
+* MAGT1 ([[magnessium]] [[transporter]]1) [[gene]] is located on [[x chromosome|chromosome Xq21.1]], which encodes for a ubiquitously expressed [[magnessium]] [[cation]] [[transporter]] [[protein]] that localizes to [[cell membrane]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* MAGT1 deficiency is caused by loss of function [[mutation]] in MAGT1 which leads to an [[immunodeficiency]] called [[XMEN]] [[syndrome]] characterized by [[chronic]] [[EBV]] [[infection]], [[CD4]] [[lymphopenia]] and [[EBV]] related [[immunoproliferative disorder|lymphoproliferative disorders]].<ref>{{Cite journal
+ | author = [[Juan Ravell]], [[Benjamin Chaigne-Delalande]] & [[Michael Lenardo]]
+ | title = X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect
+ | journal = [[Current opinion in pediatrics]]
+ | volume = 26
+ | issue = 6
+ | pages = 713–719
+ | year = 2014
+ | month = December
+ | doi = 10.1097/MOP.0000000000000156
+ | pmid = 25313976
+}}</ref>
+* It can present as [[splenomegaly]], [[hypogammaglobulinemia|dysgammaglobulinemia]], persistent elevation in [[EBV]] [[viral load]], [[EBV]] associated [[immunoproliferative disorder|lymphoproliferative disorders]] and decreased [[CD4]]/[[CD8]] ratio.<ref>{{Cite journal
+ | author = [[Juan Ravell]], [[Benjamin Chaigne-Delalande]] & [[Michael Lenardo]]
+ | title = X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect
+ | journal = [[Current opinion in pediatrics]]
+ | volume = 26
+ | issue = 6
+ | pages = 713–719
+ | year = 2014
+ | month = December
+ | doi = 10.1097/MOP.0000000000000156
+ | pmid = 25313976
+}}</ref>
+* Treatment options include; [[antibiotic|antibiotic prophylaxis]], [[antiviral|antiviral prophylaxis]], [[immunoglobulin]] replacement therapy, [[chemotherapy]] including [[rituximab]], oral Mg2+ supplementation and [[hematopoietic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Juan Ravell]], [[Benjamin Chaigne-Delalande]] & [[Michael Lenardo]]
+ | title = X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect
+ | journal = [[Current opinion in pediatrics]]
+ | volume = 26
+ | issue = 6
+ | pages = 713–719
+ | year = 2014
+ | month = December
+ | doi = 10.1097/MOP.0000000000000156
+ | pmid = 25313976
+}}</ref>
+==PRKCD Deficiency==
+* [[PRKCD]] ([[protein]] [[kinase]] C delta) [[gene]] located on [[chromosome 3|chromosome 3p21.1]] is a member of [[protein kinase]] C family of [[serine]] and [[threonine]] specific [[protein]] kinases, activated by [[diacylglycerol]] and is both a [[tumor suppressor]] and positive regulator of [[cell cycle]] progression. This [[protein]] can also positively or negatively regulate [[apoptosis]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[PRKCD]] deficiency is associated with [[primary immunodeficiency]] with [[B cell]] deficiency and severe [[autoimmunity]].<ref name="SalzerSantos-Valente2013">{{cite journal|last1=Salzer|first1=E.|last2=Santos-Valente|first2=E.|last3=Klaver|first3=S.|last4=Ban|first4=S. A.|last5=Emminger|first5=W.|last6=Prengemann|first6=N. K.|last7=Garncarz|first7=W.|last8=Mullauer|first8=L.|last9=Kain|first9=R.|last10=Boztug|first10=H.|last11=Heitger|first11=A.|last12=Arbeiter|first12=K.|last13=Eitelberger|first13=F.|last14=Seidel|first14=M. G.|last15=Holter|first15=W.|last16=Pollak|first16=A.|last17=Pickl|first17=W. F.|last18=Forster-Waldl|first18=E.|last19=Boztug|first19=K.|title=B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C  |journal=Blood|volume=121|issue=16|year=2013|pages=3112–3116|issn=0006-4971|doi=10.1182/blood-2012-10-460741}}</ref>
+* It can manifest as [[hepatosplenomegaly]], [[lymphadenopathy]], [[antiphospholipid antibody syndrome]], [[SLE|SLE like syndrome]], [[vasculitis|CNS vasculitis]] and recurrent [[infections]].<ref>{{Cite journal
+ | author = [[Elisabeth Salzer]], [[Elisangela Santos-Valente]], [[Barbel Keller]], [[Klaus Warnatz]] & [[Kaan Boztug]]
+ | title = Protein Kinase C delta: a Gatekeeper of Immune Homeostasis
+ | journal = [[Journal of clinical immunology]]
+ | volume = 36
+ | issue = 7
+ | pages = 631–640
+ | year = 2016
+ | month = October
+ | doi = 10.1007/s10875-016-0323-0
+ | pmid = 27541826
+}}</ref>
+* Treatment includes; management of complications and [[hematopoietic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Elisabeth Salzer]], [[Elisangela Santos-Valente]], [[Barbel Keller]], [[Klaus Warnatz]] & [[Kaan Boztug]]
+ | title = Protein Kinase C delta: a Gatekeeper of Immune Homeostasis
+ | journal = [[Journal of clinical immunology]]
+ | volume = 36
+ | issue = 7
+ | pages = 631–640
+ | year = 2016
+ | month = October
+ | doi = 10.1007/s10875-016-0323-0
+ | pmid = 27541826
+}}</ref>
+==XLP1==
+* XLP1 ([[X linked]] lymphoproliferative disease type 1) also called as Duncan [[disease]] is caused by a [[mutation]] in the [[gene]] called [[SH2D1A]] located on [[x chromosome|chromosome Xq25]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[SH2D1A]] [[gene]] encodes a [[protein]] that plays a major role in the bidirectional stimulation of [[t cell|T]] and [[b cell|B cells]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* It can manifest as severe immune dysregulation, severe/fatal [[EBV]] [[infection]], acquired [[hypogammaglobulinemia]], [[hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytois (HLH)]], [[aplastic anemia]], [[pure red cell aplasia|red cell aplasia]] and [[lymphomatoid granulomatosis]]. <ref>{{Cite journal
+ | author = [[D. T. Purtilo]]
+ | title = X-linked lymphoproliferative syndrome. An immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma
+ | journal = [[Archives of pathology & laboratory medicine]]
+ | volume = 105
+ | issue = 3
+ | pages = 119–121
+ | year = 1981
+ | month = March
+ | pmid = 6894075
+}}</ref><ref name="BoothGilmour2010">{{cite journal|last1=Booth|first1=C.|last2=Gilmour|first2=K. C.|last3=Veys|first3=P.|last4=Gennery|first4=A. R.|last5=Slatter|first5=M. A.|last6=Chapel|first6=H.|last7=Heath|first7=P. T.|last8=Steward|first8=C. G.|last9=Smith|first9=O.|last10=O'Meara|first10=A.|last11=Kerrigan|first11=H.|last12=Mahlaoui|first12=N.|last13=Cavazzana-Calvo|first13=M.|last14=Fischer|first14=A.|last15=Moshous|first15=D.|last16=Blanche|first16=S.|last17=Pachlopnik Schmid|first17=J.|last18=Latour|first18=S.|last19=de Saint-Basile|first19=G.|last20=Albert|first20=M.|last21=Notheis|first21=G.|last22=Rieber|first22=N.|last23=Strahm|first23=B.|last24=Ritterbusch|first24=H.|last25=Lankester|first25=A.|last26=Hartwig|first26=N. G.|last27=Meyts|first27=I.|last28=Plebani|first28=A.|last29=Soresina|first29=A.|last30=Finocchi|first30=A.|last31=Pignata|first31=C.|last32=Cirillo|first32=E.|last33=Bonanomi|first33=S.|last34=Peters|first34=C.|last35=Kalwak|first35=K.|last36=Pasic|first36=S.|last37=Sedlacek|first37=P.|last38=Jazbec|first38=J.|last39=Kanegane|first39=H.|last40=Nichols|first40=K. E.|last41=Hanson|first41=I. C.|last42=Kapoor|first42=N.|last43=Haddad|first43=E.|last44=Cowan|first44=M.|last45=Choo|first45=S.|last46=Smart|first46=J.|last47=Arkwright|first47=P. D.|last48=Gaspar|first48=H. B.|title=X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease|journal=Blood|volume=117|issue=1|year=2010|pages=53–62|issn=0006-4971|doi=10.1182/blood-2010-06-284935}}</ref>
+* The only definitive treatment available for XLP1 is [[hematopoietic stem cell transplantation|allogenic hematopoetic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Neelam Panchal]], [[Claire Booth]], [[Jennifer L. Cannons]] & [[Pamela L. Schwartzberg]]
+ | title = X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective
+ | journal = [[Frontiers in immunology]]
+ | volume = 9
+ | pages = 666
+ | year = 2018
+ | month =
+ | doi = 10.3389/fimmu.2018.00666
+ | pmid = 29670631
+}}</ref>
+==XLP2==
+* XLP2 ([[X linked]] lymphoproliferative syndrome type2) is caused by a [[mutation]] in the [[gene]] called [[XIAP]] ([[X linked]] inhibitor of [[apoptosis]]) located on [[x chromosome|chromosome Xq25]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[XIAP]] [[gene]] encodes a [[protein]] that belongs to a family of [[apoptosis|apoptotic]] suppressor [[proteins]], members of this family share a [[baculovirus]] IAP repeat which is necessary for their anti-apoptotic function.<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* XLP2 can present as; [[fever]], [[splenomegaly]], chronic [[EBV]] [[infection]], [[colitis]]/[[IBD]],[[hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis (HLH)]] and recurrent [[infections]].<ref>{{Cite journal
+ | author = [[Xi Yang]], [[Hirokazu Kanegane]], [[Naonori Nishida]], [[Toshihiko Imamura]], [[Kazuko Hamamoto]], [[Ritsuko Miyashita]], [[Kohsuke Imai]], [[Shigeaki Nonoyama]], [[Kazunori Sanayama]], [[Akiko Yamaide]], [[Fumiyo Kato]], [[Kozo Nagai]], [[Eiichi Ishii]], [[Menno C. van Zelm]], [[Sylvain Latour]], [[Xiao-Dong Zhao]] & [[Toshio Miyawaki]]
+ | title = Clinical and genetic characteristics of XIAP deficiency in Japan
+ | journal = [[Journal of clinical immunology]]
+ | volume = 32
+ | issue = 3
+ | pages = 411–420
+ | year = 2012
+ | month = June
+ | doi = 10.1007/s10875-011-9638-z
+ | pmid = 22228567
+}}</ref><ref>{{Cite journal
+ | author = [[Sylvain Latour]] & [[Claire Aguilar]]
+ | title = XIAP deficiency syndrome in humans
+ | journal = [[Seminars in cell & developmental biology]]
+ | volume = 39
+ | pages = 115–123
+ | year = 2015
+ | month = March
+ | doi = 10.1016/j.semcdb.2015.01.015
+ | pmid = 25666262
+}}</ref>
+*  Treatment includes; [[immunosuppression|immunosuppressive agents]] such as [[steroids]] or [[etoposide]] or antithymocyte [[globulin]], [[rituximab]] and IV [[immunoglobulin]] replacement therapy. The only curative treatment is [[stem cell transplantation|allogenic hematopoietic stem cell transplantation (HST)]].<ref>{{Cite journal
+ | year = 1993
+ | month =
+ | pmid = 20301295
+}}</ref>
+==CD27 Deficiency==
+* [[CD27]] deficiency/Lymphoproliferative [[syndrome]] type 2 is an [[autosomal recessive]] [[disease]] caused by a [[mutation]] in [[CD27]] [[gene]] located on [[chromosome 12|chromosome 12p13.31]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[CD27]] [[gene]] encodes a [[protien of [[TNF]]-[[receptor]] superfmaily, which is required for generation and longterm maintenance of [[T cell]] [[immunity]]. It binds to [[CD70]] and plays a role in regulating [[B cell]] activation and [[immunoglobulin]] synthesis.<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* It presents with persistent [[EBV]] [[viremia]], [[hypogammaglobulinemia]], [[hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis (HLH)]] and [[malignancy|malignant]] [[lymphoma]].<ref>{{Cite journal
+ | author = [[Elisabeth Salzer]], [[Svenja Daschkey]], [[Sharon Choo]], [[Michael Gombert]], [[Elisangela Santos-Valente]], [[Sebastian Ginzel]], [[Martina Schwendinger]], [[Oskar A. Haas]], [[Gerhard Fritsch]], [[Winfried F. Pickl]], [[Elisabeth Forster-Waldl]], [[Arndt Borkhardt]], [[Kaan Boztug]], [[Kirsten Bienemann]] & [[Markus G. Seidel]]
+ | title = Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27
+ | journal = [[Haematologica]]
+ | volume = 98
+ | issue = 3
+ | pages = 473–478
+ | year = 2013
+ | month = March
+ | doi = 10.3324/haematol.2012.068791
+ | pmid = 22801960
+}}</ref>
+* Treatment includes; management of complications, [[rituximab]] and [[stem cell transplantation|allogenic hematopoietic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Elisabeth Salzer]], [[Svenja Daschkey]], [[Sharon Choo]], [[Michael Gombert]], [[Elisangela Santos-Valente]], [[Sebastian Ginzel]], [[Martina Schwendinger]], [[Oskar A. Haas]], [[Gerhard Fritsch]], [[Winfried F. Pickl]], [[Elisabeth Forster-Waldl]], [[Arndt Borkhardt]], [[Kaan Boztug]], [[Kirsten Bienemann]] & [[Markus G. Seidel]]
+ | title = Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27
+ | journal = [[Haematologica]]
+ | volume = 98
+ | issue = 3
+ | pages = 473–478
+ | year = 2013
+ | month = March
+ | doi = 10.3324/haematol.2012.068791
+ | pmid = 22801960
+}}</ref>
+==FAAP24 Deficiency==
+* FAAP24 ([[fanconi anemia]] associated [[protein]] 24) plays a crucial role in [[DNA]] damage response, is located on [[chromosome 19|chromosome 19q13.11]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref><ref>{{Cite journal
+ | author = [[Spencer J. Collis]], [[Alberto Ciccia]], [[Andrew J. Deans]], [[Zuzana Horejsi]], [[Julie S. Martin]], [[Sarah L. Maslen]], [[J. Mark Skehel]], [[Stephen J. Elledge]], [[Stephen C. West]] & [[Simon J. Boulton]]
+ | title = FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex
+ | journal = [[Molecular cell]]
+ | volume = 32
+ | issue = 3
+ | pages = 313–324
+ | year = 2008
+ | month = November
+ | doi = 10.1016/j.molcel.2008.10.014
+ | pmid = 18995830
+}}</ref>
+* FAAP24 deficiency can present as [[EBV]] associated [[lymphoproliferative disease]], [[fanconi anemia]].<ref>{{Cite journal
+ | author = [[Svenja Daschkey]], [[Kirsten Bienemann]], [[Volker Schuster]], [[Hans Wolfgang Kreth]], [[Rene Martin Linka]], [[Andrea Honscheid]], [[Gerhard Fritz]], [[Christian Johannes]], [[Bernhard Fleckenstein]], [[Bettina Kempkes]], [[Michael Gombert]], [[Sebastian Ginzel]] & [[Arndt Borkhardt]]
+ | title = Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24
+ | journal = [[Journal of clinical immunology]]
+ | volume = 36
+ | issue = 7
+ | pages = 684–692
+ | year = 2016
+ | month = October
+ | doi = 10.1007/s10875-016-0317-y
+ | pmid = 27473539
+}}</ref><ref>{{Cite journal
+ | author = [[Hui Yang]], [[Tianlong Zhang]], [[Ye Tao]], [[Fang Wang]], [[Liang Tong]] & [[Jianping Ding]]
+ | title = Structural insights into the functions of the FANCM-FAAP24 complex in DNA repair
+ | journal = [[Nucleic acids research]]
+ | volume = 41
+ | issue = 22
+ | pages = 10573–10583
+ | year = 2013
+ | month = December
+ | doi = 10.1093/nar/gkt788
+ | pmid = 24003026
+}}</ref>
+==Autoimmune Lymphoproliferative Syndrome(ALPS)==
+* [[Autoimmune lymphoproliferative syndrome]] is caused by [[immune dysregulation]] due to a defect in [[lymphocyte]] [[apoptosis]].<ref>{{Cite journal
+ | author = [[Shaili Shah]], [[Eveline Wu]], [[V. Koneti Rao]] & [[Teresa K. Tarrant]]
+ | title = Autoimmune lymphoproliferative syndrome: an update and review of the literature
+ | journal = [[Current allergy and asthma reports]]
+ | volume = 14
+ | issue = 9
+ | pages = 462
+ | year = 2014
+ | month = September
+ | doi = 10.1007/s11882-014-0462-4
+ | pmid = 25086580
+}}</ref>
+* It occurs due to a [[mutation]] in the [[gene]] [[FAS]] ([[chromosome 10|chromosome 10q23.31]]), but can also occur due to [[mutations]] in the [[genes]] [[FAS]] [[ligand]] ([[chromosome 1|chromosome 1q24.3]]), [[caspase 10]] ([[chromosome 9]]) and [[caspase 8]] ([[chromosome 2|chromosome 2q33.1]]).<ref>{{Cite journal
+ | author = [[Pu Li]], [[Ping Huang]], [[Ye Yang]], [[Mu Hao]], [[Hongwei Peng]] & [[Fei Li]]
+ | title = Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS)
+ | journal = [[Clinical reviews in allergy & immunology]]
+ | volume = 50
+ | issue = 1
+ | pages = 55–63
+ | year = 2016
+ | month = February
+ | doi = 10.1007/s12016-015-8466-y
+ | pmid = 25663566
+}}</ref><ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* It can be transmitted in an [[autosomal recessive]] and [[autosomal dominant|dominant]] fashion.<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* It presents as; [[lymphadenopathy]], [[splenomegaly]], increased risk of [[lymphoma]] and [[autoimmune disease]] which causes [[pancytopenia|multilineage cytopenias]].<ref>{{Cite journal
+ | author = [[Shaili Shah]], [[Eveline Wu]], [[V. Koneti Rao]] & [[Teresa K. Tarrant]]
+ | title = Autoimmune lymphoproliferative syndrome: an update and review of the literature
+ | journal = [[Current allergy and asthma reports]]
+ | volume = 14
+ | issue = 9
+ | pages = 462
+ | year = 2014
+ | month = September
+ | doi = 10.1007/s11882-014-0462-4
+ | pmid = 25086580
+}}</ref>
+* Treatment includes; [[corticosteroids]], [[immunosuppression|immunosuppressive drugs]], [[IVIG]], [[granulocyte colony stimulating factor|granulocyte colony stimulating factor (G-CSF)]], [[stem cell transplantation|hematopoietic stem cell transplantation (HST)]].<ref>{{Cite journal
+ | author = [[V. Koneti Rao]] & [[Joao Bosco Oliveira]]
+ | title = How I treat autoimmune lymphoproliferative syndrome
+ | journal = [[Blood]]
+ | volume = 118
+ | issue = 22
+ | pages = 5741–5751
+ | year = 2011
+ | month = November
+ | doi = 10.1182/blood-2011-07-325217
+ | pmid = 21885601
+}}</ref>
+==FADD Deficiency==
+* [[FADD]] ([[Fas]] associated via death domain) [[gene]] located on [[chromosome 11|chromosome 11q13.3]] encodes a [[protein]] adapter molecule that interacts with various [[cell]] surface [[receptors]] including [[TNF]] [[receptor]] superfamily and mediates [[cell]] [[apoptosis|apoptotic]] signals.<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[FADD]] deficiency can present as recurrent [[infections]], [[hepatic]] dsfunction, [[cardiovascular]] [[malformations]], [[encephalopathy]], decrease in [[hematopoietic stem cells]] and progenitor enriched population and [[autoimmune lymphoproliferative syndrome]].<ref>{{Cite journal
+ | author = [[Alexandre Bolze]], [[Minji Byun]], [[David McDonald]], [[Neil V. Morgan]], [[Avinash Abhyankar]], [[Lakshmanane Premkumar]], [[Anne Puel]], [[Chris M. Bacon]], [[Frederic Rieux-Laucat]], [[Ki Pang]], [[Alison Britland]], [[Laurent Abel]], [[Andrew Cant]], [[Eamonn R. Maher]], [[Stefan J. Riedl]], [[Sophie Hambleton]] & [[Jean-Laurent Casanova]]
+ | title = Whole-exome-sequencing-based discovery of human FADD deficiency
+ | journal = [[American journal of human genetics]]
+ | volume = 87
+ | issue = 6
+ | pages = 873–881
+ | year = 2010
+ | month = December
+ | doi = 10.1016/j.ajhg.2010.10.028
+ | pmid = 21109225
+}}</ref><ref>{{Cite journal
+ | author = [[Stephen Rosenberg]], [[Haibing Zhang]] & [[Jianke Zhang]]
+ | title = FADD deficiency impairs early hematopoiesis in the bone marrow
+ | journal = [[Journal of immunology (Baltimore, Md. : 1950)]]
+ | volume = 186
+ | issue = 1
+ | pages = 203–213
+ | year = 2011
+ | month = January
+ | doi = 10.4049/jimmunol.1000648
+ | pmid = 21115735
+}}</ref>
+* Treatment includes; supportive management and [[stem cell transplantation|hematopoietic stem cell transplantation]].<ref name="SavicParry2015">{{cite journal|last1=Savic|first1=Sinisa|last2=Parry|first2=David|last3=Carter|first3=Clive|last4=Johnson|first4=Colin|last5=Logan|first5=Clare|last6=Gutierrez|first6=Beatriz Morillo|last7=Thomas|first7=Julian E.|last8=Bacon|first8=Chris M.|last9=Cant|first9=Andrew|last10=Hambleton|first10=Sophie|title=A new case of Fas-associated death domain protein deficiency and update on treatment outcomes|journal=Journal of Allergy and Clinical Immunology|volume=136|issue=2|year=2015|pages=502–505.e4|issn=00916749|doi=10.1016/j.jaci.2015.02.002}}</ref>
+==LRBA Deficiency==
+* [[LRBA]] ([[lipopolysaccharide]] responsive biege like anchor [[protein]]) [[gene]] located on [[chromosome 4|chromosome 4q31.3]] encodes a [[protein]] which associates with [[protein kinase A]] and may be involved in leading [[intracellular vesicles]] to activated [[receptor]] complexes, which aids in [[secretion]] and [[membrane]] deposition of [[immune]] effector [[molecules]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[LRBA]] deficiency can present as [[lymphoproliferation]], [[autoimmunity]], [[humoral immune deficiency]], [[pure red cell aplasia]], acquired amegakaryocytic [[thrombocytopenic purpura]] and [[inflammatory bowel disease|IBD like symptoms]].<ref>{{Cite journal
+ | author = [[Madhvi Rajpurkar]], [[Steven Buck]], [[Jennifer Lafferty]], [[Erin Wakeling]], [[Yaddanapudi Ravindranath]] & [[Sureyya Savasan]]
+ | title = Acquired Pure Red Cell Aplasia and Acquired Amegakaryocytic Thrombocytopenia Associated With Clonal Expansion of T-Cell Large Granular Lymphocytes in a Patient With Lipopolysaccharide-responsive Beige-like Anchor (LRBA) Protein Deficiency
+ | journal = [[Journal of pediatric hematology/oncology]]
+ | year = 2018
+ | month = September
+ | doi = 10.1097/MPH.0000000000001292
+ | pmid = 30188351
+}}</ref><ref>{{Cite journal
+ | author = [[Bernice Lo]], [[Kejian Zhang]], [[Wei Lu]], [[Lixin Zheng]], [[Qian Zhang]], [[Chrysi Kanellopoulou]], [[Yu Zhang]], [[Zhiduo Liu]], [[Jill M. Fritz]], [[Rebecca Marsh]], [[Ammar Husami]], [[Diane Kissell]], [[Shannon Nortman]], [[Vijaya Chaturvedi]], [[Hilary Haines]], [[Lisa R. Young]], [[Jun Mo]], [[Alexandra H. Filipovich]], [[Jack J. Bleesing]], [[Peter Mustillo]], [[Michael Stephens]], [[Cesar M. Rueda]], [[Claire A. Chougnet]], [[Kasper Hoebe]], [[Joshua McElwee]], [[Jason D. Hughes]], [[Elif Karakoc-Aydiner]], [[Helen F. Matthews]], [[Susan Price]], [[Helen C. Su]], [[V. Koneti Rao]], [[Michael J. Lenardo]] & [[Michael B. Jordan]]
+ | title = AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy
+ | journal = [[Science (New York, N.Y.)]]
+ | volume = 349
+ | issue = 6246
+ | pages = 436–440
+ | year = 2015
+ | month = July
+ | doi = 10.1126/science.aaa1663
+ | pmid = 26206937
+}}</ref><ref>{{Cite journal
+ | author = [[Abdullah Alangari]], [[Abdulrahman Alsultan]], [[Nouran Adly]], [[Michel J. Massaad]], [[Iram Shakir Kiani]], [[Abdulrahman Aljebreen]], [[Emad Raddaoui]], [[Abdul-Kareem Almomen]], [[Saleh Al-Muhsen]], [[Raif S. Geha]] & [[Fowzan S. Alkuraya]]
+ | title = LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
+ | journal = [[The Journal of allergy and clinical immunology]]
+ | volume = 130
+ | issue = 2
+ | pages = 481–488
+ | year = 2012
+ | month = August
+ | doi = 10.1016/j.jaci.2012.05.043
+ | pmid = 22721650
+}}</ref>
+* Treatment includes; [[immunosuppression|immunosuppressive therapy]], [[immunoglobulin]] replacement therapy and [[stem cell transplantation|hematopoietic stem cell transplantation (HST)]].<ref>{{Cite journal
+ | author = [[Bianca Tesi]], [[Peter Priftakis]], [[Fredrik Lindgren]], [[Samuel C. C. Chiang]], [[Nikolaos Kartalis]], [[Alexandra Lofstedt]], [[Esther Lorinc]], [[Jan-Inge Henter]], [[Jacek Winiarski]], [[Yenan T. Bryceson]] & [[Marie Meeths]]
+ | title = Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation
+ | journal = [[Journal of clinical immunology]]
+ | volume = 36
+ | issue = 5
+ | pages = 480–489
+ | year = 2016
+ | month = July
+ | doi = 10.1007/s10875-016-0289-y
+ | pmid = 27146671
+}}</ref>
+==STAT3 GOF Mutations==
+* [[STAT3]] (signal transducer & activator of [[transcription]] 3) [[gene]] located on [[chromosome 17|chromosome 17q21.2]] encodes a [[protein]], which when [[phosphorylation|phosphorylated]] and activated translocates to the [[nucleus]] and mediates the expression of variety of [[genes]], playing a key role in many [[cell|cellular]] processes such as [[cell]] growth and [[apoptosis]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[STAT3]] GOF (STAT3 gain of function) [[mutation]] can present as; [[lymphocytic leukemia]], [[myelodysplastic syndrome]], [[aplastic anemia]], [[infections]], multiorgan [[autoimmune disease]] and [[short stature]].<ref>{{Cite journal
+ | author = [[Joshua D. Milner]], [[Tiphanie P. Vogel]], [[Lisa Forbes]], [[Chi A. Ma]], [[Asbjorg Stray-Pedersen]], [[Julie E. Niemela]], [[Jonathan J. Lyons]], [[Karin R. Engelhardt]], [[Yu Zhang]], [[Nermina Topcagic]], [[Elisha D. O. Roberson]], [[Helen Matthews]], [[James W. Verbsky]], [[Trivikram Dasu]], [[Alexander Vargas-Hernandez]], [[Nidhy Varghese]], [[Kenneth L. McClain]], [[Lina B. Karam]], [[Karen Nahmod]], [[George Makedonas]], [[Emily M. Mace]], [[Hanne S. Sorte]], [[Gori Perminow]], [[V. Koneti Rao]], [[Michael P. O'Connell]], [[Susan Price]], [[Helen C. Su]], [[Morgan Butrick]], [[Joshua McElwee]], [[Jason D. Hughes]], [[Joseph Willet]], [[David Swan]], [[Yaobo Xu]], [[Mauro Santibanez-Koref]], [[Voytek Slowik]], [[Darrell L. Dinwiddie]], [[Christina E. Ciaccio]], [[Carol J. Saunders]], [[Seth Septer]], [[Stephen F. Kingsmore]], [[Andrew J. White]], [[Andrew J. Cant]], [[Sophie Hambleton]] & [[Megan A. Cooper]]
+ | title = Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
+ | journal = [[Blood]]
+ | volume = 125
+ | issue = 4
+ | pages = 591–599
+ | year = 2015
+ | month = January
+ | doi = 10.1182/blood-2014-09-602763
+ | pmid = 25359994
+}}</ref>
+* Treatment includes; [[steroids]], [[IVIG]], [[rituximab]], [[mycophenolic acid]] and [[hematopoietic stem cell transplantation]].<ref>{{Cite journal
+ | author = [[Michael Alexander Weinreich]], [[Tiphanie P. Vogel]], [[V. Koneti Rao]] & [[Joshua D. Milner]]
+ | title = Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant
+ | journal = [[Frontiers in pediatrics]]
+ | volume = 5
+ | pages = 49
+ | year = 2017
+ | month =
+ | doi = 10.3389/fped.2017.00049
+ | pmid = 28349047
+}}</ref><ref name="Haddad2015">{{cite journal|last1=Haddad|first1=E.|title=STAT3: too much may be worse than not enough!|journal=Blood|volume=125|issue=4|year=2015|pages=583–584|issn=0006-4971|doi=10.1182/blood-2014-11-610592}}</ref>
+==IL10 Deficiency==
+* IL10 ([[interleukin]] 10) [[gene]] located on [[chromosome 1|chromosome 1q32.1]] encodes a [[protein]] that has [[pleiotropic]] effects in [[immunoregulation]] and [[inflammation]]. It downregulates the expression of [[helper t cell|Th1]] [[cytokines]], [[MHC class II antigens]] & costimulatory molecules on [[macrophages]]. It also enhances [[B cell]] survival, proliferation & [[antibody]] production.<ref>{{Cite journal
+ | author = [[W. K. Eddie Ip]], [[Namiko Hoshi]], [[Dror S. Shouval]], [[Scott Snapper]] & [[Ruslan Medzhitov]]
+ | title = Anti-inflammatory effect of IL-10 mediated by metabolic reprogramming of macrophages
+ | journal = [[Science (New York, N.Y.)]]
+ | volume = 356
+ | issue = 6337
+ | pages = 513–519
+ | year = 2017
+ | month = May
+ | doi = 10.1126/science.aal3535
+ | pmid = 28473584
+}}</ref><ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* IL10 deficency can present as; immune dysregulation and very early onset [[inflammatory bowel disease]] (VEO-IBD).<ref>{{Cite journal
+ | author = [[Karin R. Engelhardt]], [[Neil Shah]], [[Intan Faizura-Yeop]], [[Dilara F. Kocacik Uygun]], [[Natalie Frede]], [[Aleixo M. Muise]], [[Eyal Shteyer]], [[Serkan Filiz]], [[Ronnie Chee]], [[Mamoun Elawad]], [[Britta Hartmann]], [[Peter D. Arkwright]], [[Christopher Dvorak]], [[Christoph Klein]], [[Jennifer M. Puck]], [[Bodo Grimbacher]] & [[Erik-Oliver Glocker]]
+ | title = Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation
+ | journal = [[The Journal of allergy and clinical immunology]]
+ | volume = 131
+ | issue = 3
+ | pages = 825–830
+ | year = 2013
+ | month = March
+ | doi = 10.1016/j.jaci.2012.09.025
+ | pmid = 23158016
+}}</ref><ref>{{Cite journal
+ | author = [[Lei Zhu]], [[Tingting Shi]], [[Chengdi Zhong]], [[Yingde Wang]], [[Michael Chang]] & [[Xiuli Liu]]
+ | title = IL-10 and IL-10 Receptor Mutations in Very Early Onset Inflammatory Bowel Disease
+ | journal = [[Gastroenterology research]]
+ | volume = 10
+ | issue = 2
+ | pages = 65–69
+ | year = 2017
+ | month = April
+ | doi = 10.14740/gr740w
+ | pmid = 28496525
+}}</ref>
+* The only curative treatment option is [[stem cell transplantation|hematopoietic stem cell transplantation (HST)]].<ref name="EngelhardtShah2013">{{cite journal|last1=Engelhardt|first1=Karin R.|last2=Shah|first2=Neil|last3=Faizura-Yeop|first3=Intan|last4=Kocacik Uygun|first4=Dilara F.|last5=Frede|first5=Natalie|last6=Muise|first6=Aleixo M.|last7=Shteyer|first7=Eyal|last8=Filiz|first8=Serkan|last9=Chee|first9=Ronnie|last10=Elawad|first10=Mamoun|last11=Hartmann|first11=Britta|last12=Arkwright|first12=Peter D.|last13=Dvorak|first13=Christopher|last14=Klein|first14=Christoph|last15=Puck|first15=Jennifer M.|last16=Grimbacher|first16=Bodo|last17=Glocker|first17=Erik-Oliver|title=Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation|journal=Journal of Allergy and Clinical Immunology|volume=131|issue=3|year=2013|pages=825–830.e9|issn=00916749|doi=10.1016/j.jaci.2012.09.025}}</ref><ref name="KaracaAksu2016">{{cite journal|last1=Karaca|first1=Neslihan Edeer|last2=Aksu|first2=Guzide|last3=Ulusoy|first3=Ezgi|last4=Aksoylar|first4=Serap|last5=Gozmen|first5=Salih|last6=Genel|first6=Ferah|last7=Akarcan|first7=Sanem|last8=Gulez|first8=Nesrin|last9=Hirschmugl|first9=Tatjana|last10=Kansoy|first10=Savas|last11=Boztug|first11=Kaan|last12=Kutukculer|first12=Necil|title=Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases|journal=Case Reports in Immunology|volume=2016|year=2016|pages=1–5|issn=2090-6609|doi=10.1155/2016/5459029}}</ref>
+===IL10RA Deficiency===
+* IL10RA ([[internleukin]] 10 [[receptor]] subunit alpha) [[gene]] located on [[chromosome 11|chromosome 11q23.3]] encodes a [[protein]] which is a [[receptor]] for [[interleukin]] 10. It mediates the [[immunosuppression
+immunosuppressive]] signal for IL10 and thus inhibits the synthesis of proinflammatory [[cytokines]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+===IL10RB Deficiency===
+* IL10RB ([[interleukin]] 10 [[receptor]] subunit beta) [[gene]] located on [[chromosome 21|chromosome 21q22.11]] encodes a [[protein]] which belongs to [[cytokine]] [[receptor]] family. It is an accessory chain essential for active [[interleukin]] 10 [[receptor]] complex. Cooexpression of this and IL10RA [[protein]] is required for IL10 induced signal transduction.<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+==NFAT5 Haploinsufficiency==
+* [[NFAT5]] ([[nucleus|nuclear]] factor of activated [[T cells]] 5) [[gene]] located on [[chromosome 16|chromosome 16q22.1]] encodes a [[protein]], which is a member of activated [[T cells]] family of [[transcription factors]]. They play a central role in inducible [[gene]] [[transcription]] during immune response. This [[protein]] regulates [[gene]] expression induced by [[osmosis|osmotic]] stress in mammalian [[cell|cells]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[NFAT5]] [[haploinsufficiency]] presents with; [[autoimmune diseases]], [[primary immunodeficiency syndromes]], [[autoimmune]] enterocolopathy, decreased [[cytokines]] and [[natural killer cell|NK cells]] and [[inflammatory bowel disease|inflammatory bowel disease (IBD)]].<ref>{{Cite journal
+ | author = [[Brigid S. Boland]], [[Christella E. Widjaja]], [[Asoka Banno]], [[Bing Zhang]], [[Stephanie H. Kim]], [[Samantha Stoven]], [[Michael R. Peterson]], [[Marilyn C. Jones]], [[H. Irene Su]], [[Sheila E. Crowe]], [[Jack D. Bui]], [[Samuel B. Ho]], [[Yoshinaga Okugawa]], [[Ajay Goel]], [[Eric V. Marietta]], [[Mahdieh Khosroheidari]], [[Kristen Jepsen]], [[Jose Aramburu]], [[Cristina Lopez-Rodriguez]], [[William J. Sandborn]], [[Joseph A. Murray]], [[Olivier Harismendy]] & [[John T. Chang]]
+ | title = Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency
+ | journal = [[Journal of immunology (Baltimore, Md. : 1950)]]
+ | volume = 194
+ | issue = 6
+ | pages = 2551–2560
+ | year = 2015
+ | month = March
+ | doi = 10.4049/jimmunol.1401463
+ | pmid = 25667416
+}}</ref>
+* Treatment includes supportive management and [[immunosuppression|immunosuppressive drugs]].<ref name="BolandWidjaja2015">{{cite journal|last1=Boland|first1=Brigid S.|last2=Widjaja|first2=Christella E.|last3=Banno|first3=Asoka|last4=Zhang|first4=Bing|last5=Kim|first5=Stephanie H.|last6=Stoven|first6=Samantha|last7=Peterson|first7=Michael R.|last8=Jones|first8=Marilyn C.|last9=Su|first9=H. Irene|last10=Crowe|first10=Sheila E.|last11=Bui|first11=Jack D.|last12=Ho|first12=Samuel B.|last13=Okugawa|first13=Yoshinaga|last14=Goel|first14=Ajay|last15=Marietta|first15=Eric V.|last16=Khosroheidari|first16=Mahdieh|last17=Jepsen|first17=Kristen|last18=Aramburu|first18=Jose|last19=López-Rodríguez|first19=Cristina|last20=Sandborn|first20=William J.|last21=Murray|first21=Joseph A.|last22=Harismendy|first22=Olivier|last23=Chang|first23=John T.|title=Immunodeficiency and Autoimmune Enterocolopathy Linked to NFAT5 Haploinsufficiency|journal=The Journal of Immunology|volume=194|issue=6|year=2015|pages=2551–2560|issn=0022-1767|doi=10.4049/jimmunol.1401463}}</ref>
+==Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)==
+* [[APECED]] or autoimmune polyendocrinopathy syndrome type 1 (APS1), an [[autoimmune]] [[recessive]] [[disease]] caused by a [[mutation]] in the [[gene]] called AIRE ([[autoimmune]] regulator) located on [[chromosome 21|chromosome 21q22.3]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* The [[autoimmune]] regulator [[gene]] (AIRE) encodes a [[transcription|transciptional]] regulator which plays an important role in [[immunity]] by regulating the expression of [[autoantigens]] & negative selection of autoreactive [[T cells] in [[thymus]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[APECED]] is characterized by presence of [[candidiasis|chronic candida infection]], [[autoimmune]] [[hypoparathyroidism]] and [[addison's disease]]. At least two of these three major components need to be present for [[diagnosis]].<ref>{{Cite journal
+ | author = [[P. Peterson]], [[J. Pitkanen]], [[N. Sillanpaa]] & [[K. Krohn]]
+ | title = Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity
+ | journal = [[Clinical and experimental immunology]]
+ | volume = 135
+ | issue = 3
+ | pages = 348–357
+ | year = 2004
+ | month = March
+ | pmid = 15008965
+}}</ref>
+* Other features of [[APECED]] include; [[ovarian failure]], [[insulin dependent diabetes mellitus|insulin dependant diabetes mellitus (IDDM)]], [[enamel]] [[hypoplasia]], [[alopecia]] and [[nail dystrophy]].<ref>{{Cite journal
+ | author = [[P. Peterson]], [[J. Pitkanen]], [[N. Sillanpaa]] & [[K. Krohn]]
+ | title = Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity
+ | journal = [[Clinical and experimental immunology]]
+ | volume = 135
+ | issue = 3
+ | pages = 348–357
+ | year = 2004
+ | month = March
+ | pmid = 15008965
+}}</ref>
+* Management of [[APECED]] involves treatment of its individual conditions and knowledge and high index of suspicion of this rare [[syndrome]] can lead to early detection and prevention of most of its [[complications]].<ref>{{Cite journal
+ | author = [[Choudhary Sonal]], [[McLeod Michael]], [[Torchia Daniele]] & [[Romanelli Paolo]]
+ | title = Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
+ | journal = [[The Journal of clinical and aesthetic dermatology]]
+ | volume = 5
+ | issue = 12
+ | pages = 18–22
+ | year = 2012
+ | month = December
+ | pmid = 23277800
+}}</ref>
+==ITCH Deficiency==
+* ITCH (itchy E3 [[ubiquitin]] [[protein]] [[ligase]])[[gene]] located on [[chromosome|chromosome 20q11.22]] encodes a member of the Nedd4 family of HECT domain E3 [[ubiquitin]] [[ligases]], which plays a role in multiple [[cell|cellular]] processes including [[erythroid]] and [[lymphoid]] [[cell]] [[proliferation]] and regulation of [[immunity|immune responses]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* ITCH deficiency presents with [[hepatosplenomegaly]], [[failure to thrive]], [[developmental delay]], [[dysmorphic features]], [[macrocephaly|relative macrocephaly]], [[chronic lung disease]] and [[autoimmune]] [[diseases]].<ref>{{Cite journal
+ | author = [[Naomi J. Lohr]], [[Jean P. Molleston]], [[Kevin A. Strauss]], [[Wilfredo Torres-Martinez]], [[Eric A. Sherman]], [[Robert H. Squires]], [[Nicholas L. Rider]], [[Kudakwashe R. Chikwava]], [[Oscar W. Cummings]], [[D. Holmes Morton]] & [[Erik G. Puffenberger]]
+ | title = Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease
+ | journal = [[American journal of human genetics]]
+ | volume = 86
+ | issue = 3
+ | pages = 447–453
+ | year = 2010
+ | month = March
+ | doi = 10.1016/j.ajhg.2010.01.028
+ | pmid = 20170897
+}}</ref>
+* Treatment includes; [[corticosteroids]], [[azathioprine]], [[rapamycin]] and [[tacrolimus]].<ref>{{Cite journal
+ | author = [[Naomi J. Lohr]], [[Jean P. Molleston]], [[Kevin A. Strauss]], [[Wilfredo Torres-Martinez]], [[Eric A. Sherman]], [[Robert H. Squires]], [[Nicholas L. Rider]], [[Kudakwashe R. Chikwava]], [[Oscar W. Cummings]], [[D. Holmes Morton]] & [[Erik G. Puffenberger]]
+ | title = Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease
+ | journal = [[American journal of human genetics]]
+ | volume = 86
+ | issue = 3
+ | pages = 447–453
+ | year = 2010
+ | month = March
+ | doi = 10.1016/j.ajhg.2010.01.028
+ | pmid = 20170897
+}}</ref>
+==ZAP70 Mutations==
+* ZAP70 (zeta chain associated [[protein]] [[kinase]] 70) [[gene]] located on [[chromosome 2|chromosome 2q11.2]] encodes an [[enzyme]] belonging to [[protein]] [[tyrosine]] [[kinase]] family & plays a role in [[T cell]] development and [[lymphocyte]] activation. This [[enzyme]] is also essential for [[thymocyte]] development.<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* ZAP70 [[mutations]] are associated with many [[autoimmune]] [[diseases]] including [[chronic lymphocytic leukemia|chronic lymphocytic leukemia (CLL)]] and [[severe combined immunodeficiency|severe combined immunodeficiency (SCID)]].<ref>{{Cite journal
+ | author = [[Haopeng Wang]], [[Theresa A. Kadlecek]], [[Byron B. Au-Yeung]], [[Hanna E. Sjolin Goodfellow]], [[Lih-Yun Hsu]], [[Tanya S. Freedman]] & [[Arthur Weiss]]
+ | title = ZAP-70: an essential kinase in T-cell signaling
+ | journal = [[Cold Spring Harbor perspectives in biology]]
+ | volume = 2
+ | issue = 5
+ | pages = a002279
+ | year = 2010
+ | month = May
+ | doi = 10.1101/cshperspect.a002279
+ | pmid = 20452964
+}}</ref>
+* Treatment of choice is [[stem cell transplantation|hematopoietic stem cell transplantation (HST)]].<ref>{{Cite journal
+ | author = [[Alice Y. Chan]], [[Divya Punwani]], [[Theresa A. Kadlecek]], [[Morton J. Cowan]], [[Jean L. Olson]], [[Erin F. Mathes]], [[Uma Sunderam]], [[Shu Man Fu]], [[Rajgopal Srinivasan]], [[John Kuriyan]], [[Steven E. Brenner]], [[Arthur Weiss]] & [[Jennifer M. Puck]]
+ | title = A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70
+ | journal = [[The Journal of experimental medicine]]
+ | volume = 213
+ | issue = 2
+ | pages = 155–165
+ | year = 2016
+ | month = February
+ | doi = 10.1084/jem.20150888
+ | pmid = 26783323
+}}</ref>
+==Tripeptidyl Peptidase II deficiency (TPP2)==
+* [[TPP2|TPP2 (tripeptidyl peptidase 2)]] [[gene]] located on [[chromosome 13|chromosome 13q33.1]] encodes a mammalian [[peptidase]] that at neutral [[PH]], removes [[tripeptides]] from N terminus of longer [[peptides]]. The [[protein]] has a specialized function that is essential for some [[MHC class I]] [[antigen presentation]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[TPP2]] deficiency causes recurrent [[infections]], recurrent orolabial [[HSV-1]] [[infections]], early onset [[evan's syndrome]],[[CNS]] [[SLE]] and [[developmental delays]].<ref>{{Cite journal
+ | author = [[Wei Lu]], [[Yu Zhang]], [[David O. McDonald]], [[Huie Jing]], [[Bernadette Carroll]], [[Nic Robertson]], [[Qian Zhang]], [[Helen Griffin]], [[Sharon Sanderson]], [[Jeremy H. Lakey]], [[Neil V. Morgan]], [[Louise N. Reynard]], [[Lixin Zheng]], [[Heardley M. Murdock]], [[Stuart E. Turvey]], [[Scott J. Hackett]], [[Tim Prestidge]], [[Julie M. Hall]], [[Andrew J. Cant]], [[Helen F. Matthews]], [[Mauro F. Santibanez Koref]], [[Anna Katharina Simon]], [[Viktor I. Korolchuk]], [[Michael J. Lenardo]], [[Sophie Hambleton]] & [[Helen C. Su]]
+ | title = Dual proteolytic pathways govern glycolysis and immune competence
+ | journal = [[Cell]]
+ | volume = 159
+ | issue = 7
+ | pages = 1578–1590
+ | year = 2014
+ | month = December
+ | doi = 10.1016/j.cell.2014.12.001
+ | pmid = 25525876
+}}</ref><ref name="StepenskyRensing-Ehl2014">{{cite journal|last1=Stepensky|first1=P.|last2=Rensing-Ehl|first2=A.|last3=Gather|first3=R.|last4=Revel-Vilk|first4=S.|last5=Fischer|first5=U.|last6=Nabhani|first6=S.|last7=Beier|first7=F.|last8=Brummendorf|first8=T. H.|last9=Fuchs|first9=S.|last10=Zenke|first10=S.|last11=Firat|first11=E.|last12=Pessach|first12=V. M.|last13=Borkhardt|first13=A.|last14=Rakhmanov|first14=M.|last15=Keller|first15=B.|last16=Warnatz|first16=K.|last17=Eibel|first17=H.|last18=Niedermann|first18=G.|last19=Elpeleg|first19=O.|last20=Ehl|first20=S.|title=Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency|journal=Blood|volume=125|issue=5|year=2014|pages=753–761|issn=0006-4971|doi=10.1182/blood-2014-08-593202}}</ref>
+* Treatment of choice is [[stem cell transplantation|heamatopoietic stem cell transplantation (HST)]].<ref>{{Cite journal
+ | author = [[Wei Lu]], [[Yu Zhang]], [[David O. McDonald]], [[Huie Jing]], [[Bernadette Carroll]], [[Nic Robertson]], [[Qian Zhang]], [[Helen Griffin]], [[Sharon Sanderson]], [[Jeremy H. Lakey]], [[Neil V. Morgan]], [[Louise N. Reynard]], [[Lixin Zheng]], [[Heardley M. Murdock]], [[Stuart E. Turvey]], [[Scott J. Hackett]], [[Tim Prestidge]], [[Julie M. Hall]], [[Andrew J. Cant]], [[Helen F. Matthews]], [[Mauro F. Santibanez Koref]], [[Anna Katharina Simon]], [[Viktor I. Korolchuk]], [[Michael J. Lenardo]], [[Sophie Hambleton]] & [[Helen C. Su]]
+ | title = Dual proteolytic pathways govern glycolysis and immune competence
+ | journal = [[Cell]]
+ | volume = 159
+ | issue = 7
+ | pages = 1578–1590
+ | year = 2014
+ | month = December
+ | doi = 10.1016/j.cell.2014.12.001
+ | pmid = 25525876
+}}</ref>
+==JAK1 GOF==
+* [[janus kinase 1|JAK1 (janus kinase1)]] [[gene]] located on [[chromosome 1|chromosome 1p31.3]] encodes a [[membrane]] [[protein]] that is a member of class of [[protein]] [[tyrosine kinase|tyrosine kinases (PTK)]] that plays a role in [[interferon-alpha]]/[[interferon beta|beta]] and [[interferon gamma]] [[signal transduction]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* JAK1 GOF (gain of function) [[mutation]] causes [[autosomal dominant]] [[immune dysregulation]], [[hypereosinophilia]] with eosinophilic [[infiltration]] of [[GIT|gastro interstinal tract]], [[hepatosplenomegaly|massive hepatosplenomegaly]] and [[atopic dermatitis]].<ref name="Del BelRagotte2017">{{cite journal|last1=Del Bel|first1=Kate L.|last2=Ragotte|first2=Robert J.|last3=Saferali|first3=Aabida|last4=Lee|first4=Susan|last5=Vercauteren|first5=Suzanne M.|last6=Mostafavi|first6=Sara A.|last7=Schreiber|first7=Richard A.|last8=Prendiville|first8=Julie S.|last9=Phang|first9=Min S.|last10=Halparin|first10=Jessica|last11=Au|first11=Nicholas|last12=Dean|first12=John M.|last13=Priatel|first13=John J.|last14=Jewels|first14=Emily|last15=Junker|first15=Anne K.|last16=Rogers|first16=Paul C.|last17=Seear|first17=Michael|last18=McKinnon|first18=Margaret L.|last19=Turvey|first19=Stuart E.|title=JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome|journal=Journal of Allergy and Clinical Immunology|volume=139|issue=6|year=2017|pages=2016–2020.e5|issn=00916749|doi=10.1016/j.jaci.2016.12.957}}</ref>
+* Treatment includes; [[ruxolitinib]] and [[stem cell transplantation|hematopoietic stem cell transplantation (HST)]].<ref name="Del BelRagotte2017">{{cite journal|last1=Del Bel|first1=Kate L.|last2=Ragotte|first2=Robert J.|last3=Saferali|first3=Aabida|last4=Lee|first4=Susan|last5=Vercauteren|first5=Suzanne M.|last6=Mostafavi|first6=Sara A.|last7=Schreiber|first7=Richard A.|last8=Prendiville|first8=Julie S.|last9=Phang|first9=Min S.|last10=Halparin|first10=Jessica|last11=Au|first11=Nicholas|last12=Dean|first12=John M.|last13=Priatel|first13=John J.|last14=Jewels|first14=Emily|last15=Junker|first15=Anne K.|last16=Rogers|first16=Paul C.|last17=Seear|first17=Michael|last18=McKinnon|first18=Margaret L.|last19=Turvey|first19=Stuart E.|title=JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome|journal=Journal of Allergy and Clinical Immunology|volume=139|issue=6|year=2017|pages=2016–2020.e5|issn=00916749|doi=10.1016/j.jaci.2016.12.957}}</ref><ref>{{Cite journal
+ | author = [[Marketa Bloomfield]], [[Veronika Kanderova]], [[Zuzana Parackova]], [[Petra Vrabcova]], [[Michael Svaton]], [[Eva Fronkova]], [[Martina Fejtkova]], [[Radana Zachova]], [[Michal Rataj]], [[Irena Zentsova]], [[Tomas Milota]], [[Adam Klocperk]], [[Tomas Kalina]] & [[Anna Sediva]]
+ | title = Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation
+ | journal = [[Journal of clinical immunology]]
+ | year = 2018
+ | month = June
+ | doi = 10.1007/s10875-018-0519-6
+ | pmid = 29934865
+}}</ref>
+==Prolidase Deficiency==
+* [[Prolidase]] [[gene]] located on [[chromosome 19|chromosome 19q13.11]] encodes a member of [[peptidase]] family. It forms a [[homodimer]] that [[hydrolyzes]] [[dipeptides]] or [[tripeptides]] with C terminal [[proline]] or [[hydroxyproline]] residues. The [[enzyme]] has an important role in recycling of [[proline]] and may be rate limiting for production of [[collagen]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[Prolidase]] deficiency presents with [[skin lesions]], recurrent [[infections]], [[dysmorphic facial features]], [[hepatomegaly]] with elevated [[liver]] [[enzymes]], [[splenomegaly]], [[intellectual disability]], [[anemia]], [[thrombocytopenia]], and [[hypergammaglobulinemia]].<ref>{{Cite journal
+ | author = [[Carlos Ferreira]] & [[Heng Wang]]
+ | title = Prolidase Deficiency
+ | year = 1993
+ | month =
+ | pmid = 26110198
+}}</ref>
+* Treatment includes; treatment of manifestations and supportive treatment. There is no curative treatment available.<ref>{{Cite journal
+ | author = [[Carlos Ferreira]] & [[Heng Wang]]
+ | title = Prolidase Deficiency
+ | year = 1993
+ | month =
+ | pmid = 26110198
+}}</ref>
+==IPEX (Immune dysregulation, Polyendocrinopathy,enteropathy)==
+* [[IPEX]] also called [[X-linked]] [[autoimmunity]]-[[immunodeficiency]] [[syndromes]] caused by a defect in the [[gene]] called [[FOXP3]] (forkhead box P3) located on [[x chromosome|chromosome Xp11.23]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[FOXP3]] [[gene]] encodes a [[protein]] member of forkhead/winged-helix family of [[transcription|transcriptional]] regulators.<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* It is characterized by the clinical triad of [[watery diarrhea]], [[endocrinopathy]] (commonly [[IDDM]]) and [[dermatitis|eczematous dermatitis]]. Other features include; [[splenomegaly]], [[lymphadenopathy]], [[cytopenias]] and [[autoimmune hepatitis]] or [[nephropathy]].<ref>{{Cite journal
+ | author = [[Queenie K.-G. Tan]], [[Raymond J. Louie]] & [[John W. Sleasman]]
+ | title = IPEX Syndrome
+ | year = 1993
+ | month =
+ | pmid = 20301297
+}}</ref>
+* Treatment includes; management of the complications and [[stem cell transplantation|hematopoietic stem cell transplantation (HST)]] remains the ony cure.<ref>{{Cite journal
+ | author = [[Queenie K.-G. Tan]], [[Raymond J. Louie]] & [[John W. Sleasman]]
+ | title = IPEX Syndrome
+ | year = 1993
+ | month =
+ | pmid = 20301297
+}}</ref>
+==CD25 Deficiency (IL2RA)==
+* [[CD25]] deificiency is caused by [[IL10RA]] ([[internleukin]] 10 [[receptor]] subunit alpha) deficiency, whose [[gene]] located on [[chromosome 11|chromosome 11q23.3]] encodes a [[protein]] which is a [[receptor]] for [[interleukin]] 10. It mediates the [[immunosuppression|immunosuppressive]] signal for [[IL10]] and thus inhibits the synthesis of [[inflammation|proinflammatory]] [[cytokines]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* [[CD25]] deficiency can present with [[primary biliary cirrhosis]], chronic and severe [[inflammation|inflammatory]] [[lung]] [[disease]] and [[immune]] [[dysregulation]], [[endocrinopathy]], [[enteropathy]], [[X linked]] like [[syndrome]].<ref>{{Cite journal
+ | author = [[L. Bezrodnik]], [[M. S. Caldirola]], [[A. G. Seminario]], [[I. Moreira]] & [[M. I. Gaillard]]
+ | title = Follicular bronchiolitis as phenotype associated with CD25 deficiency
+ | journal = [[Clinical and experimental immunology]]
+ | volume = 175
+ | issue = 2
+ | pages = 227–234
+ | year = 2014
+ | month = February
+ | doi = 10.1111/cei.12214
+ | pmid = 24116927
+}}</ref><ref name="AmmannSchulz2016">{{cite journal|last1=Ammann|first1=S.|last2=Schulz|first2=A.|last3=Krageloh-Mann|first3=I.|last4=Dieckmann|first4=N. M. G.|last5=Niethammer|first5=K.|last6=Fuchs|first6=S.|last7=Eckl|first7=K. M.|last8=Plank|first8=R.|last9=Werner|first9=R.|last10=Altmuller|first10=J.|last11=Thiele|first11=H.|last12=Nurnberg|first12=P.|last13=Bank|first13=J.|last14=Strauss|first14=A.|last15=von Bernuth|first15=H.|last16=zur Stadt|first16=U.|last17=Grieve|first17=S.|last18=Griffiths|first18=G. M.|last19=Lehmberg|first19=K.|last20=Hennies|first20=H. C.|last21=Ehl|first21=S.|title=Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome|journal=Blood|volume=127|issue=8|year=2016|pages=997–1006|issn=0006-4971|doi=10.1182/blood-2015-09-671636}}</ref>
+* Treatment includes; [[corticosteroids]], [[rituximab]], [[intravenous]] [[immunglobulin]], [[cyclosporin]], [[antibiotics]] and [[bone marrow transplantation]].<ref name="CaudyReddy2007">{{cite journal|last1=Caudy|first1=Amy A.|last2=Reddy|first2=Sreelatha T.|last3=Chatila|first3=Talal|last4=Atkinson|first4=John P.|last5=Verbsky|first5=James W.|title=CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like syndrome, and defective IL-10 expression from CD4 lymphocytes|journal=Journal of Allergy and Clinical Immunology|volume=119|issue=2|year=2007|pages=482–487|issn=00916749|doi=10.1016/j.jaci.2006.10.007}}</ref><ref>{{Cite journal
+ | author = [[N. Sharfe]], [[H. K. Dadi]], [[M. Shahar]] & [[C. M. Roifman]]
+ | title = Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor
+ | journal = [[Proceedings of the National Academy of Sciences of the United States of America]]
+ | volume = 94
+ | issue = 7
+ | pages = 3168–3171
+ | year = 1997
+ | month = April
+ | pmid = 9096364
+}}</ref>
+==CTLA4 Deficiency (ALPSV) ==
+* CLTA4 ([[cytotoxic T lymphocyte]] associated [[protein]] 4) gene located on [[chromosome 2|chromosome 2q33.2]] encodes a [[protein]] which transmits an inhibitory signal to [[T cells]].<ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* CLTA4 deficiency can present with [[lymphadenopathy]], [[splenomegaly]], [[hypogammaglobulinemia]], organ specific [[autoimmunity]] and lymphocytic infiltration of nonlymphoid organs.<ref name="LoFritz2016">{{cite journal|last1=Lo|first1=B.|last2=Fritz|first2=J. M.|last3=Su|first3=H. C.|last4=Uzel|first4=G.|last5=Jordan|first5=M. B.|last6=Lenardo|first6=M. J.|title=CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency|journal=Blood|volume=128|issue=8|year=2016|pages=1037–1042|issn=0006-4971|doi=10.1182/blood-2016-04-712612}}</ref>
+* Treatment includes; [[abatacept]], [[sirolimus]], [[chloroquine]] and [[stem cell transplantation|hematopoietic stem cell transplantation (HST)]].<ref name="LoFritz2016">{{cite journal|last1=Lo|first1=B.|last2=Fritz|first2=J. M.|last3=Su|first3=H. C.|last4=Uzel|first4=G.|last5=Jordan|first5=M. B.|last6=Lenardo|first6=M. J.|title=CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency|journal=Blood|volume=128|issue=8|year=2016|pages=1037–1042|issn=0006-4971|doi=10.1182/blood-2016-04-712612}}</ref>
+==BACH2 Deficiency==
+* [[BACH2]] (BTB domain and CNC homolog2) [[gene]] located on [[chromosome 6|chromosome 6q15]] encodes a [[transcription factor]] which represses its target [[genes]] and plays an important role in differentiation of [[t cell|T]] and [[b cell|B]] [[lymphoid]] [[cells]].<ref>{{Cite journal
+ | author = [[Yuki Sato]], [[Hiroki Kato]], [[Risa Ebina-Shibuya]], [[Ari Itoh-Nakadai]], [[Ryuhei Okuyama]] & [[Kazuhiko Igarashi]]
+ | title = Bach2 Controls Homeostasis of Eosinophils by Restricting the Type-2 Helper Function of T Cells
+ | journal = [[The Tohoku journal of experimental medicine]]
+ | volume = 241
+ | issue = 3
+ | pages = 175–182
+ | year = 2017
+ | month = March
+ | doi = 10.1620/tjem.241.175
+ | pmid = 28216546
+}}</ref><ref>{{Cite journal
+ | author = [[Linn Fagerberg]], [[Bjorn M. Hallstrom]], [[Per Oksvold]], [[Caroline Kampf]], [[Dijana Djureinovic]], [[Jacob Odeberg]], [[Masato Habuka]], [[Simin Tahmasebpoor]], [[Angelika Danielsson]], [[Karolina Edlund]], [[Anna Asplund]], [[Evelina Sjostedt]], [[Emma Lundberg]], [[Cristina Al-Khalili Szigyarto]], [[Marie Skogs]], [[Jenny Ottosson Takanen]], [[Holger Berling]], [[Hanna Tegel]], [[Jan Mulder]], [[Peter Nilsson]], [[Jochen M. Schwenk]], [[Cecilia Lindskog]], [[Frida Danielsson]], [[Adil Mardinoglu]], [[Asa Sivertsson]], [[Kalle von Feilitzen]], [[Mattias Forsberg]], [[Martin Zwahlen]], [[IngMarie Olsson]], [[Sanjay Navani]], [[Mikael Huss]], [[Jens Nielsen]], [[Fredrik Ponten]] & [[Mathias Uhlen]]
+ | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
+ | journal = [[Molecular & cellular proteomics : MCP]]
+ | volume = 13
+ | issue = 2
+ | pages = 397–406
+ | year = 2014
+ | month = February
+ | doi = 10.1074/mcp.M113.035600
+ | pmid = 24309898
+}}</ref>
+* BACH2 deficiency can present with [[lymphadenopathy]], [[splenomegaly]], [[inflammatory bowel disease]], [[chronic diarrhea]] and recurrent [[infection|sinopulmonary infections]].<ref>{{Cite journal
+ | author = [[Behdad Afzali]], [[Juha Gronholm]], [[Jana Vandrovcova]], [[Charlotte O'Brien]], [[Hong-Wei Sun]], [[Ine Vanderleyden]], [[Fred P. Davis]], [[Ahmad Khoder]], [[Yu Zhang]], [[Ahmed N. Hegazy]], [[Alejandro V. Villarino]], [[Ira W. Palmer]], [[Joshua Kaufman]], [[Norman R. Watts]], [[Majid Kazemian]], [[Olena Kamenyeva]], [[Julia Keith]], [[Anwar Sayed]], [[Dalia Kasperaviciute]], [[Michael Mueller]], [[Jason D. Hughes]], [[Ivan J. Fuss]], [[Mohammed F. Sadiyah]], [[Kim Montgomery-Recht]], [[Joshua McElwee]], [[Nicholas P. Restifo]], [[Warren Strober]], [[Michelle A. Linterman]], [[Paul T. Wingfield]], [[Holm H. Uhlig]], [[Rahul Roychoudhuri]], [[Timothy J. Aitman]], [[Peter Kelleher]], [[Michael J. Lenardo]], [[John J. O'Shea]], [[Nichola Cooper]] & [[Arian D. J. Laurence]]
+ | title = BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency
+ | journal = [[Nature immunology]]
+ | volume = 18
+ | issue = 7
+ | pages = 813–823
+ | year = 2017
+ | month = July
+ | doi = 10.1038/ni.3753
+ | pmid = 28530713
+}}</ref>
+* Treatment includes [[stem cell transplantation|hematopoietic stem cell transplantation (HST)]].<ref name="NakamuraEbina-Shibuya2013">{{cite journal|last1=Nakamura|first1=Atsushi|last2=Ebina-Shibuya|first2=Risa|last3=Itoh-Nakadai|first3=Ari|last4=Muto|first4=Akihiko|last5=Shima|first5=Hiroki|last6=Saigusa|first6=Daisuke|last7=Aoki|first7=Junken|last8=Ebina|first8=Masahito|last9=Nukiwa|first9=Toshihiro|last10=Igarashi|first10=Kazuhiko|title=Transcription repressor Bach2 is required for pulmonary surfactant homeostasis and alveolar macrophage function|journal=The Journal of Experimental Medicine|volume=210|issue=11|year=2013|pages=2191–2204|issn=0022-1007|doi=10.1084/jem.20130028}}</ref>
 ==References==
 {{Reflist|2}}

Diseases of immune dysregulation: Difference between revisions

Latest revision as of 22:52, 28 January 2019

Overview

Classification

Hemophagocytic Lymphohistiocytosis (HLH) & EBV Susceptibility

Syndromes with Autoimmunity and Others

Chediak Higashi Syndrome

Griscelli Syndrome type 2

Hermansky Pudlak Syndrome type 2

Hermansky Pudlak Syndrome type 10

Perforin Deficiency

UNC13D/Munc13-4 Deficiency

Syntaxin 11 Deficiency

STXBP2/Munc18-2 Deficiency

RASGRP1 Deficiency

CD70 Deficiency

CTPS1 Deficiency

RLTPR (CARMIL2) Deficiency

ITK Deficiency

MAGT1 Deficiency

PRKCD Deficiency

XLP1

XLP2

CD27 Deficiency

FAAP24 Deficiency

Autoimmune Lymphoproliferative Syndrome(ALPS)

FADD Deficiency

LRBA Deficiency

STAT3 GOF Mutations

IL10 Deficiency

IL10RA Deficiency

IL10RB Deficiency

NFAT5 Haploinsufficiency

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)

ITCH Deficiency

ZAP70 Mutations

Tripeptidyl Peptidase II deficiency (TPP2)

JAK1 GOF

Prolidase Deficiency

IPEX (Immune dysregulation, Polyendocrinopathy,enteropathy)

CD25 Deficiency (IL2RA)

CTLA4 Deficiency (ALPSV)

BACH2 Deficiency

References

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