Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

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Synonyms: MSMD due to complete IFNgammaR1 deficiency | MSMD due to complete interferon gamma receptor 1 deficiency | Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1 leading to impaired IFN-gamma immunity and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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