Diseases of immune dysregulation: Difference between revisions

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* 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, partial albinism, neutropenia, abnormal susceptibility to infections and malignant lymphoma, large eosinophilic peroxidase positive inclusion bosides in myeloblasts and promyelocytes of bone marrow.<ref>{{Cite journal
| author = [[Chau Huynh]], [[Doris Roth]], [[Diane M. Ward]], [[Jerry Kaplan]] & [[Norma W. Andrews]]
| title = Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells
| journal = [[Proceedings of the National Academy of Sciences of the United States of America]]
| volume = 101
| issue = 48
| pages = 16795–16800
| year = 2004
| month = November
| doi = 10.1073/pnas.0405905101
| pmid = 15557559
}}</ref>




Revision as of 16:18, 11 October 2018

Immunodeficiency Main Page

Home

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

  • Chediak Higashi syndrome is caused by homozygous or compound heterogenous autosomal recessive mutation in the lysosomal trafficking gene (LYST:606897) on chromosome 1q42.[1][2]
  • 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.[3]





For more information on Chediak Higashi syndrome, click here.

Griscelli Syndrome type 2

References

  1. ↑ M. D. Barbosa, Q. A. Nguyen, V. T. Tchernev, J. A. Ashley, J. C. Detter, S. M. Blaydes, S. J. Brandt, D. Chotai, C. Hodgman, R. C. Solari, M. Lovett & S. F. Kingsmore (1996). "Identification of the homologous beige and Chediak-Higashi syndrome genes". Nature. 382 (6588): 262–265. doi:10.1038/382262a0. PMID 8717042. Unknown parameter |month= ignored (help)
  2. ↑ D. L. Nagle, M. A. Karim, E. A. Woolf, L. Holmgren, P. Bork, D. J. Misumi, S. H. McGrail, B. J. Jr Dussault, C. M. Perou, R. E. Boissy, G. M. Duyk, R. A. Spritz & K. J. Moore (1996). "Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome". Nature genetics. 14 (3): 307–311. doi:10.1038/ng1196-307. PMID 8896560. Unknown parameter |month= ignored (help)
  3. ↑ Chau Huynh, Doris Roth, Diane M. Ward, Jerry Kaplan & Norma W. Andrews (2004). "Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells". Proceedings of the National Academy of Sciences of the United States of America. 101 (48): 16795–16800. doi:10.1073/pnas.0405905101. PMID 15557559. Unknown parameter |month= ignored (help)
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