Diseases of immune dysregulation: Difference between revisions

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==Hermansky Pudlak Syndrome type 2==
==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>
* 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>
* 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 (G-CSF) because of netropenia 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>
* Treatment includes chronic [[antibiotic]] [[therapy]] and granulocyte colony stimulating factor (G-CSF) because of [[netropenia]] 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 type 10==

Revision as of 12:02, 30 October 2018

Immunodeficiency Main Page

Home

Overview

Classification

Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

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

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

Griscelli Syndrome type 2

Hermansky Pudlak Syndrome type 2

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

  • CD 70 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]
  • CD 70 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 hematopoeitic 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 hematopoetic stem cell transplantation.[39]

MAGT1 Deficiency

  • MSGT1 (magnessium transporter1) gene is located on chromosome Xq21.1, which encodes for a ubiquitously expressed magenssium 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 hematopoetic 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 hematopoetic 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 protein 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 heatopoietic 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 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 erytroid 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 gastrointerstinal 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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  4. ↑ Kirtisudha Mishra, Shilpy Singla, Suvasini Sharma, Renu Saxena & Vineeta Vijay Batra (2014). "Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum". Korean journal of pediatrics. 57 (2): 91–95. doi:10.3345/kjp.2014.57.2.91. PMID 24678334. Unknown parameter |month= ignored (help)
  5. ↑ I. P. Meschede, T. O. Santos, T. C. Izidoro-Toledo, J. Gurgel-Gianetti & E. M. Espreafico (2008). "Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure". Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas. 41 (10): 839–848. PMID 19030707. Unknown parameter |month= ignored (help)
  6. ↑ Amira Masri, Faris G. Bakri, Maissa Al-Hussaini, Azmy Al-Hadidy, Rania Hirzallah, Genevieve de Saint Basile & Hanan Hamamy (2008). "Griscelli syndrome type 2: a rare and lethal disorder". Journal of child neurology. 23 (8): 964–967. doi:10.1177/0883073808315409. PMID 18403584. Unknown parameter |month= ignored (help)
  7. ↑ 7.0 7.1 Jung, J. (2006). "Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2". Blood. 108 (1): 362–369. doi:10.1182/blood-2005-11-4377. ISSN 0006-4971.
  8. ↑ Hengst, Meike; Naehrlich, Lutz; Mahavadi, Poornima; Grosse-Onnebrink, Joerg; Terheggen-Lagro, Suzanne; Skanke, Lars Høsøien; Schuch, Luise A.; Brasch, Frank; Guenther, Andreas; Reu, Simone; Ley-Zaporozhan, Julia; Griese, Matthias (2018). "Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood". Orphanet Journal of Rare Diseases. 13 (1). doi:10.1186/s13023-018-0780-z. ISSN 1750-1172.
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  10. ↑ . doi:10.1111/pde.13266. Epub 2017 Oct 16. Check |doi= value (help). Missing or empty |title= (help)
  11. ↑ Iwona Osinska, Katarzyna Popko & Urszula Demkow (2014). "Perforin: an important player in immune response". Central-European journal of immunology. 39 (1): 109–115. doi:10.5114/ceji.2014.42135. PMID 26155110.
  12. ↑ Iwona Osinska, Katarzyna Popko & Urszula Demkow (2014). "Perforin: an important player in immune response". Central-European journal of immunology. 39 (1): 109–115. doi:10.5114/ceji.2014.42135. PMID 26155110.
  13. ↑ Iwona Osinska, Katarzyna Popko & Urszula Demkow (2014). "Perforin: an important player in immune response". Central-European journal of immunology. 39 (1): 109–115. doi:10.5114/ceji.2014.42135. PMID 26155110.
  14. ↑ Jlenia Monfregola, Jennifer Linda Johnson, Michael M. Meijler, Gennaro Napolitano & Sergio Daniel Catz (2012). "MUNC13-4 protein regulates the oxidative response and is essential for phagosomal maturation and bacterial killing in neutrophils". The Journal of biological chemistry. 287 (53): 44603–44618. doi:10.1074/jbc.M112.414029. PMID 23115246. Unknown parameter |month= ignored (help)
  15. ↑ 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 (2006). "Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis". Journal of medical genetics. 43 (12): 953–960. doi:10.1136/jmg.2006.041863. PMID 16825436. Unknown parameter |month= ignored (help)
  16. ↑ 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 (2017). "Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency". Blood advances. 1 (27): 2781–2789. doi:10.1182/bloodadvances.2017012088. PMID 29296930. Unknown parameter |month= ignored (help)
  17. ↑ Valentina Cetica, Daniela Pende, Gillian M. Griffiths & Maurizio Arico (2010). "Molecular basis of familial hemophagocytic lymphohistiocytosis". Haematologica. 95 (4): 538–541. doi:10.3324/haematol.2009.019562. PMID 20378576. Unknown parameter |month= ignored (help)
  18. ↑ Tamara Kogl, Jurgen Muller, Birthe Jessen, Annette Schmitt-Graeff, Gritta Janka, Stephan Ehl, Udo zur Stadt & Peter Aichele (2013). "Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease". Blood. 121 (4): 604–613. doi:10.1182/blood-2012-07-441139. PMID 23190531. Unknown parameter |month= ignored (help)
  19. ↑ 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)
  20. ↑ 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)
  21. ↑ 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)
  22. ↑ 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.
  23. ↑ 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)
  24. ↑ 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)
  25. ↑ 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)
  26. ↑ 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)
  27. ↑ 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)
  28. ↑ 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)
  29. ↑ 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)
  30. ↑ 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.
  31. ↑ 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)
  32. ↑ 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.
  33. ↑ 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)
  34. ↑ 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)
  35. ↑ 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)
  36. ↑ 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)
  37. ↑ 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)
  38. ↑ 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)
  39. ↑ 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)
  40. ↑ 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)
  41. ↑ 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)
  42. ↑ 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)
  43. ↑ 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)
  44. ↑ 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)
  45. ↑ 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.
  46. ↑ 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)
  47. ↑ 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)
  48. ↑ 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)
  49. ↑ 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)
  50. ↑ 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)
  51. ↑ 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.
  52. ↑ 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.
  53. ↑ 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)
  54. ↑ 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)
  55. ↑ 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)
  56. ↑ 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)
  57. ↑ . 1993. PMID 20301295. Missing or empty |title= (help)
  58. ↑ 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)
  59. ↑ 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)
  60. ↑ 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)
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  92. ↑ 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)
  93. ↑ 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)
  94. ↑ 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)
  95. ↑ 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.
  96. ↑ 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)
  97. ↑ 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)
  98. ↑ 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)
  99. ↑ 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)
  100. ↑ 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)
  101. ↑ 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)
  102. ↑ 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)
  103. ↑ 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)
  104. ↑ 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)
  105. ↑ 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)
  106. ↑ 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 (2016). "A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70". The Journal of experimental medicine. 213 (2): 155–165. doi:10.1084/jem.20150888. PMID 26783323. Unknown parameter |month= ignored (help)
  107. ↑ 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)
  108. ↑ 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)
  109. ↑ Stepensky, P.; Rensing-Ehl, A.; Gather, R.; Revel-Vilk, S.; Fischer, U.; Nabhani, S.; Beier, F.; Brummendorf, T. H.; Fuchs, S.; Zenke, S.; Firat, E.; Pessach, V. M.; Borkhardt, A.; Rakhmanov, M.; Keller, B.; Warnatz, K.; Eibel, H.; Niedermann, G.; Elpeleg, O.; Ehl, S. (2014). "Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency". Blood. 125 (5): 753–761. doi:10.1182/blood-2014-08-593202. ISSN 0006-4971.
  110. ↑ 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)
  111. ↑ 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. ↑ 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.
  113. ↑ 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)
  114. ↑ 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)
  115. ↑ Carlos Ferreira & Heng Wang (1993). "Prolidase Deficiency". PMID 26110198.
  116. ↑ Carlos Ferreira & Heng Wang (1993). "Prolidase Deficiency". PMID 26110198.
  117. ↑ 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)
  118. ↑ 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)
  119. ↑ Queenie K.-G. Tan, Raymond J. Louie & John W. Sleasman (1993). "IPEX Syndrome". PMID 20301297.
  120. ↑ Queenie K.-G. Tan, Raymond J. Louie & John W. Sleasman (1993). "IPEX Syndrome". PMID 20301297.
  121. ↑ 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)
  122. ↑ 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)
  123. ↑ 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.
  124. ↑ 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)
  125. ↑ 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. ↑ 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.
  127. ↑ 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)
  128. ↑ 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)
  129. ↑ 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)
  130. ↑ 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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