DISEASE: Omenn syndrome

Entry

H02554                      Disease

Name

Omenn syndrome

Supergrp

T-B-Severe combined immunodeficiency [DS:H00092]
Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]

Description

Omenn syndrome is a rare autosomal recessive disease that is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Mutations in the recombination activating genes 1 and 2 (RAG1/2) have been described in the majority of patients with this disease. Omenn syndrome caused by ARTEMIS (DCLRE1C) mutations has also been reported.

Category

Immune system disease

Brite

Human diseases [BR:br08402]
Immune system diseases
  Primary immunodeficiency
   H02554  Omenn syndrome
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H02554  Omenn syndrome

Related
pathway

hsa04068

FoxO signaling pathway

Gene

RAG1 [HSA:5896] [KO:K10628]
RAG2 [HSA:5897] [KO:K10988]
DCLRE1C [HSA:64421] [KO:K10887]

Other DBs

ICD-11:

4A01.10

ICD-10:

D84.8

MeSH:

D016511

OMIM:

603554

Reference

PMID:10226883 (RAG1, RAG2)

Authors

Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD

Title

Omenn syndrome: a disorder of Rag1 and Rag2 genes.

Journal

J Clin Immunol 19:87-97 (1999)
DOI:10.1023/a:1020550432126

Reference

PMID:26996199 (RAG1, RAG2)

Authors

Notarangelo LD, Kim MS, Walter JE, Lee YN

Title

Human RAG mutations: biochemistry and clinical implications.

Journal

Nat Rev Immunol 16:234-46 (2016)
DOI:10.1038/nri.2016.28

Reference

PMID:15731174 (DCLRE1C)

Authors

Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U

Title

Omenn syndrome due to ARTEMIS mutations.

Journal

Blood 105:4179-86 (2005)
DOI:10.1182/blood-2004-12-4861

» Japanese version

All links

Network (4)   
   KEGG NETWORK (1)   
   KEGG VARIANT (3)   
Disease (1)   
   OMIM (1)   
Gene (6)   
   KEGG ORTHOLOGY (3)   
   KEGG GENES (3)   
Literature (3)   
   PubMed (3)   
All databases (14)   

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