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

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

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

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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