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A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occurring in males.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for X-linked Mendelian susceptibility to mycobacterial diseases.
6 publications have been identified in PubMed for X-linked Mendelian susceptibility to mycobacterial diseases. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Basic Science / Preclinical (20%).
Roosens W (2026). [PMID: 41765213](https://pubmed.ncbi.nlm.nih.gov/41765213/). *Clin Immunol*. [Case Report / Case Series]
Zhou Q (2026). [PMID: 41623352](https://pubmed.ncbi.nlm.nih.gov/41623352/). *J Hum Immun*. [Case Report / Case Series]
Wang H (2025). [PMID: 41433053](https://pubmed.ncbi.nlm.nih.gov/41433053/). *Genomics Proteomics Bioinformatics*. [Basic Science / Preclinical]
Raghuraman K (2025). [PMID: 40656276](https://pubmed.ncbi.nlm.nih.gov/40656276/). *Cureus*. [Review / Meta-Analysis]
Gemici Karaaslan B (2024). [PMID: 39183693](https://pubmed.ncbi.nlm.nih.gov/39183693/). *Balkan Med J*. [Review / Meta-Analysis]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:30 PM UTC
European rare disease database
Common questions about X-linked Mendelian susceptibility to mycobacterial diseases