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).