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 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).
MONDO:0019146
inherited susceptibility to mycobacterial diseases
is_a
IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
exact
IFNGR1 deficiency
related
MSMD due to complete IFNgammaR1 deficiency
exact
MSMD due to complete interferon gamma receptor 1 deficiency
exact
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency
exact
autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1
exact
interferon gamma, receptor 1, deficiency
related