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GENATLAS PHENOTYPE

last update : 21-01-2009

Symbol	SCIDBL
Location	11p12
Name	severe combined immunodeficiency, T cell-negative, B cell-negative, NK cell-positive
Corresponding gene	RAG1 , RAG2
Other symbol(s)	SCID
Main clinical features	defective cellular and humoral immune function, presenting in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus profound lymphopenia with diminished or absent immunoglobulins with absence of T cell-mediated cellular immunity due to a defect in T-cell development without treatment, patients usually die within the first year of life
Genetic determination	autosomal recessive
Prevalence	1 in 75,000 births
Related entries	recurrent, persistent infections by opportunistic organisms
Function/system disorder	defense and immunity
Type	disease

Gene product

Name	recombinase activating gene 1 or 2 or both (RAG1, RAG2)

Remark(s)

conserved tryptophan residue (W453) that constitutes a key structural component of the K4me3-binding surface and is essential for RAG2 recognition of H3K4me3 is mutated in patients with immunodeficiency syndromes (Matthews 2007)