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]
Overview
Classification
Template:Famliy tree
| | Diseases of Immune Dysregulation | | | | | | | |
|
| | | | | | | | | | | | | | | |
| | | | | |
| | | | | | | | | | 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 | | | | | |
|
| | | | | | | | | | | | 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 | | | | | | | | | | | |
|