Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
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).
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Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency?
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Immune Deficiency Foundation
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Care-for-Rare America Inc
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Ukrainian Association of Pediatric Immunology
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