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GENATLAS PHENOTYPE

last update : 3/07/2006

Symbol	BLS2C
Location	1q21
Name	Bare lymphocyte syndrome type II
Corresponding gene	RFX5
Main clinical features	extreme sensibility to bacterial, viral, fungal infections, usually beginning in the first year of life and ending in death with overwhelming infections often by the age of four years major histocompatibility class II deficiency syndrome, complementation group C (severe congenital immunodeficiency) or complementation groupe E
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Gene product

Name	MHC-II transactivating regulatory factor, component 5

Remark(s)