Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Synonyms: Autosomal recessive MSMD due to partial IFNgammaR1 deficiency | Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1 leading to a residual response to IFN-gamma and consequently to recurrent moderately severe 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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency?
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Immune Deficiency Foundation
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