Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).

Also known as: IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive MSMD due to partial IFNgammaR1 deficiency, autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency itself.