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GENATLAS PHENOTYPE

last update : 17-01-2015

Symbol	IMD11
Location	7p22.2
Name	immunodeficiency 11
Corresponding gene	CARD11
Main clinical features	primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling; block in B-cell differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T cells and defects in T-cell function recurrent respiratory infections and pneumonia
Genetic determination	autosomal recessive
Function/system disorder	hematology
Type	disease

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