Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).

Also known as: IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant MSMD due to partial IFNgammaR2 deficiency, autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency, autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency

5 clinical trials for this condition and its sub-types.