Diseases of immune dysregulation

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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

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

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

IL10RB Deficiency

NFAT5 Haploinsufficiency

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)

ITCH Deficiency

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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  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)
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