STAT1 function has not been fully characterized.

Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 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: 2 always present features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome.

7 publications have been identified in PubMed for autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).

Recent Publications

• Vemula M (2025). [PMID: 41608501](https://pubmed.ncbi.nlm.nih.gov/41608501/). *Journal of human immunity*. [Basic Science / Preclinical]

• Sparanese S (2025). [PMID: 40704637](https://pubmed.ncbi.nlm.nih.gov/40704637/). *Endocrinology, diabetes &amp; metabolism case reports*. [Case Report / Case Series]

• Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergologie select*. [Case Report / Case Series]

• Alakeel A (2024). [PMID: 39687689](https://pubmed.ncbi.nlm.nih.gov/39687689/). *Dermatology reports*. [Case Report / Case Series]

• Cortesi M (2024). [PMID: 39749336](https://pubmed.ncbi.nlm.nih.gov/39749336/). *Frontiers in immunology*. [Epidemiology / Natural History]

• Fink FM (2024). [PMID: 39114664](https://pubmed.ncbi.nlm.nih.gov/39114664/). *Frontiers in immunology*. [Basic Science / Preclinical]

• Olbrich P (2024). [PMID: 39475850](https://pubmed.ncbi.nlm.nih.gov/39475850/). *Current opinion in allergy and clinical immunology*. [Review / Meta-Analysis]