autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, 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:0008856
immunodeficiency 27A
excluded_subClassOf
MONDO:0020573
inherited disease susceptibility
is_a
IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
exact
autosomal recessive MSMD due to partial IFNgammaR1 deficiency
exact
autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
exact
autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1
exact
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
exact