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GENATLAS PHENOTYPE

last update : 05-09-2017

Symbol	IMD33
Location	Xq28
Name	Immunodeficiency 33
Corresponding gene	IKBKG
Main clinical features	infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 normal numbers of immune cells, normal T-cell proliferative responses, and normal immunoglobulins with proper antibody responses to vaccination
Genetic determination	sex linked
Related entries	including Immunodeficiency, isolated OMIM 300584, and the invasive pneumococcal disease, recurrent isolated, 2 (OMIM 300640)
Function/system disorder	defense and immunity
Type	disease

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