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Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

MONDO:0017900

Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).

Also known as: IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency, MSMD due to complete IFNgammaR2 deficiency, MSMD due to complete interferon gamma receptor 2 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2

0 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency itself.

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