KEGG   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 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
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06506  Double-strand break repair
   H02554  Omenn syndrome
Pathway
hsa04068  FoxO signaling pathway
Network
nt06506 Double-strand break repair
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
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