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A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.
Features include common findings: BCGitis, Recurrent mycobacterium avium complex infections, and Recurrent viral infections. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 3 | Recurrent mycobacterium avium complex infections, Recurrent viral infections, Immunodeficiency |
STAT1 function has not been fully characterized.
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency is caused by mutations in the STAT1 gene on chromosome 2.
Genetic testing for STAT1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency.
5 publications have been identified in PubMed for Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Epidemiology / Natural History (20%).
Zhang W (2026). [PMID: 41957131](https://pubmed.ncbi.nlm.nih.gov/41957131/). *J Clin Immunol*. [Epidemiology / Natural History]
Raghuraman K (2025). [PMID: 40656276](https://pubmed.ncbi.nlm.nih.gov/40656276/). *Cureus*. [Review / Meta-Analysis]
Alroqi F (2024). [PMID: 38991411](https://pubmed.ncbi.nlm.nih.gov/38991411/). *J Infect Public Health*. [Case Report / Case Series]
Lim QY (2024). [PMID: 39840042](https://pubmed.ncbi.nlm.nih.gov/39840042/). *Front Immunol*. [Case Report / Case Series]
Gemici Karaaslan B (2024). [PMID: 39183693](https://pubmed.ncbi.nlm.nih.gov/39183693/). *Balkan Med J*. [Review / Meta-Analysis]
Data assembled from 7 of 12 sources · Last updated Sep 21, 2026, 2:32 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Common questions about Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency