autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
MONDO:0019146
inherited susceptibility to mycobacterial diseases
is_a
IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
exact
IFNGR1 deficiency, autosomal dominant
exact
IMD27B
exact
autosomal dominant MSMD due to partial IFNgammaR1 deficiency
exact
autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
exact
autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1
exact
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
exact
immunodeficiency 27B
exact
immunodeficiency 27B, Mycobacteriosis, autosomal dominant
exact
immunodeficiency 27B, mycobacteriosis, AD
exact
immunodeficiency type 27B
exact