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Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD 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-GuC)rin (BCG) and other environmental mycobacteria (EM).
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency.
1 publication has been identified in PubMed for Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency. Research spans Case Report / Case Series (100%).
Alroqi F (2024). [PMID: 38991411](https://pubmed.ncbi.nlm.nih.gov/38991411/). *J Infect Public Health*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:43 AM UTC
European rare disease database
Common questions about Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency