Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
What is Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency?
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) 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-Guérin (BCG) and other environmental mycobacteria (EM).
Other condition names
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