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: Template:Zahir, Anmol Pitliya, M.B.B.S. M.D.[2]

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

UNCBD/Munc13-4 deficiency(FHL3)

CD70 Deficiency

XL,XLP2,XIAP

Hermansky Pudlak Syndrome type2:AP3B1

Syntaxin II 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

Yes

Occassionally

NO: Regulatory T cells Defects?

IL10Ra Deficiency, IL10RA, AR

ALPS, Autoimmune Lymphoproliferative Syndrome

LRBA Deficiency

NO

YES

IL10Rb Deficiency, IL10RB, RA

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

NFATS haploinsufficiency, NAFTS, AD

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

For more information on Chediak Higashi syndrome, click here.