Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Synonyms: 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
Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) 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-Guérin (BCG) and other environmental mycobacteria (EM).
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Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency?
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Immune Deficiency Foundation
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