autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).
MONDO:0013953
immunodeficiency 28
excluded_subClassOf
MONDO:0019146
inherited susceptibility to mycobacterial diseases
is_a
IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
exact
MSMD due to complete IFNgammaR2 deficiency
exact
MSMD due to complete interferon gamma receptor 2 deficiency
exact
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
exact
autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2
exact