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OMIM

Gene

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GENATLAS PHENOTYPE

last update : 12-04-2010

Symbol	SCIDO
Location	11p12
Name	Omenn syndrome
Other name(s)	reticuloendotheliosis, familial, with eosinophilia severe combined immunodeficiency with hypereosinophiliars-scid
Corresponding gene	RAG1 , RAG2
Main clinical features	characterized by extremely restricted T cell heterogeneity and a lack of B cells associated with erythrodermia, eosinophilia, hepatosplenomegaly, lymphadenopathy, elevated serum IgE levels, and pathological features of graft-versus-host disease and AIRE deficiency in thymus
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Gene product

Name	recombination V(D)J activating gene RAG1 or RAG2 (RAG1 or RAG2 defect)

Remark(s)

. C325Y substitution severely abrogated ubiquitin ligase activity of RAG1 RING finger domain, and the tertiary structure of the domain was altered; the P326G substitution also abrogated ubiquitin ligase activity but had a less severe effect on protein folding (Simkus 2007)