Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
MONDO:0017903A 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).
Also known as: IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant MSMD due to partial IFNgammaR2 deficiency, autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency, autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
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