AIRE encodes autoimmune regulator (545 aa). Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA). Highest expression in Brain Hypothalamus (4.0 TPM) and Brain Anterior cingulate cortex BA24 (1.7 TPM).

Autoimmune polyendocrine syndrome type 1 is caused by mutations in the AIRE gene on chromosome 21.

AIRE is classified as a druggable target (Transcription Factor category) with score 2.6.

Genetic testing for AIRE is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autoimmune polyendocrine syndrome type 1 has been reported in the published literature.

Phenotype severity distribution: 8 always present features, 3 very common features, 12 common features.

Estimated prevalence: 1-9 in 1,000,000 (Rare).

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions and biologic therapy. Research is primarily sponsored by academic and government institutions.

62 publications have been identified in PubMed for autoimmune polyendocrine syndrome type 1. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (19%).

Recent Publications

• Dzhamaludinova AA (2026). [PMID: 42227095](https://pubmed.ncbi.nlm.nih.gov/42227095/). *Probl Endokrinol (Mosk)*. [Epidemiology / Natural History]

• Franco BB (2026). [PMID: 42221389](https://pubmed.ncbi.nlm.nih.gov/42221389/). *AACE Endocrinol Diabetes*. [Case Report / Case Series]

• Anas M (2026). [PMID: 41957123](https://pubmed.ncbi.nlm.nih.gov/41957123/). *Eye (Lond)*. [Review / Meta-Analysis]

• Irvine J (2026). [PMID: 41529198](https://pubmed.ncbi.nlm.nih.gov/41529198/). *Clin Exp Dermatol*. [Epidemiology / Natural History]

• Liu S (2026). [PMID: 41993177](https://pubmed.ncbi.nlm.nih.gov/41993177/). *Front Immunol*. [Review / Meta-Analysis]

• Wilson CS (2026). [PMID: 41223156](https://pubmed.ncbi.nlm.nih.gov/41223156/). *Diabetes Care*. [Case Report / Case Series]

• Stemple JT (2026). [PMID: 42157958](https://pubmed.ncbi.nlm.nih.gov/42157958/). *Case Rep Crit Care*. [Case Report / Case Series]

• Sandini E (2026). [PMID: 41394114](https://pubmed.ncbi.nlm.nih.gov/41394114/). *J Endocr Soc*. [Epidemiology / Natural History]

• Baioumi A (2026). [PMID: 41712317](https://pubmed.ncbi.nlm.nih.gov/41712317/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]

• Peterson P (2026). [PMID: 41461613](https://pubmed.ncbi.nlm.nih.gov/41461613/). *Immunol Rev*. [Review / Meta-Analysis]