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GENATLAS PHENOTYPE

last update : 10-10-2015

Symbol	CVID12
Location	4q24
Name	Immunodeficiency, common variable, 12
Corresponding gene	NFKB1
Main clinical features	recurrent infections, mainly respiratory, associated with hypogammaglobulinemia the disorder shows a highly variable age at onset and highly variable disease severity reduced serum immunoglobulins with normal B and T cell counts
Genetic determination	autosomal dominant
Function/system disorder	defense and immunity
Type	disease

Remark(s)