Diseases of immune dysregulation: Difference between revisions

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==Chediak Higashi Syndrome==
==Chediak Higashi Syndrome==
* Chediak Higashi syndrome is caused by homozygous or compound heterogenous autosomal recessive mutation in the lysosomal trafficking gene (LYST:606897) on chromosome 1q42.
* Chediak Higashi syndrome is caused by [[homozygous]] or compound heterogenous [[autosomal recessive]] [[mutation]] in the [[Lysosome|lysosomal]] trafficking [[gene]] (LYST:606897) on [[chromosome]] 1q42.
* It is characterized by photophobia, nystagmus, partial albinism, neutropenia, abnormal susceptibility to infections and malignant lymphoma, large eosinophilic peroxidase positive inclusion bosides in myeloblasts and promyelocytes of bone marrow.
* It is characterized by [[photophobia]], [[nystagmus]], [[Albinism|partial albinism]], [[neutropenia]], abnormal susceptibility to [[Infection|infections]] and [[Lymphoma (patient information)|malignant lymphoma]], large [[Eosinophil granulocyte|eosinophilic]] [[peroxidase]] positive inclusion bosides in [[Myeloblast|myeloblasts]] and [[Promyelocyte|promyelocytes]] of [[bone marrow]].
* The most effective treatment is hematopoeitic stem cell transplantation.
* The most effective treatment is [[Stem cell transplantation|hematopoeitic stem cell transplantation]].
* For more information on Chediak Higashi syndrome, [[Chediak-Higashi Syndrome|click here]].
* For more information on Chediak Higashi syndrome, [[Chediak Higashi Syndrome|click here]].


==Griscelli Syndrome type 2==
==Griscelli Syndrome type 2==

Revision as of 16:48, 11 October 2018

Immunodeficiency Main Page

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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
 
 
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
 
IL10Ra Deficiency, IL10RA, AR
 
IL10Rb Deficiency, IL10RB, RA
 
NFATS 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

References