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GENATLAS PHENOTYPE

last update : 8/11/2005

Symbol	BLS2B
Location	19p12
Name	Bare lymphocyte syndrome type II
Corresponding gene	RFXANK
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 B, most common form
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Gene product

Name	RFX-associated transactivation (RFXANK)