autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, 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).
MONDO:0013953
immunodeficiency 28
excluded_subClassOf
MONDO:0020573
inherited disease susceptibility
is_a
IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
exact
autosomal recessive MSMD due to partial IFNgammaR2 deficiency
exact
autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
exact
autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2
exact
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
exact