autosomal dominant 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 impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
MONDO:0019146
inherited susceptibility to mycobacterial diseases
is_a
IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
exact
autosomal dominant MSMD due to partial IFNgammaR2 deficiency
exact
autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency
exact
autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2
exact
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
exact