Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
MONDO:0020530Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).
Also known as: IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency, MSMD due to complete IFNgammaR1 deficiency, MSMD due to complete interferon gamma receptor 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1, IFNGR1 deficiency, interferon gamma, receptor 1, deficiency
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