Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
MONDO:0014429A 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).
Also known as: IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency, IFNGR1 deficiency, autosomal dominant, IMD27B, autosomal dominant MSMD due to partial IFNgammaR1 deficiency, autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency, autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency, immunodeficiency 27B
5 clinical trials for this condition and its sub-types.
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