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autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

Disease Summary
Associated Targets ()

Mondo Description 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).
Mondo Term and Equivalent IDs
MONDO:0017900:  autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Orphanet:319547: 
UMLS:CN203956: