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GENATLAS PHENOTYPE

last update : 14-12-2013

Symbol	CVID9
Location	3p21.1
Name	immunodeficiency, common variable, 9
Corresponding gene	PRKCD
Main clinical features	primary immune deficiency syndrome characterized by B-cell deficiency and severe autoimmunity recurrent infections involving most systems (respiratory, urinary, gastrointestinal) beginning in the first year of life
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Remark(s)