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    Glossary AIRE gene

    regulates immune tolerance to prevent autoimmune diseases

    The AIRE gene, short for Autoimmune Regulator gene, plays a crucial role in the immune system by helping the body distinguish between its own cells and foreign invaders. Mutations in this gene can lead to autoimmune disorders, where the immune system mistakenly attacks the body's own tissues, potentially causing conditions like alopecia areata.

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    Research 30 of 133

    1. Role of the Autoimmune Regulator (<i>AIRE</i>) gene in alopecia areata: Strong association of a potentially functional <i>AIRE</i> polymorphism with alopecia universalis Tissue Antigens · 2002 · 86 citations
    2. Novel and recurrent mutations in the <i>AIRE</i> gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients Clinical genetics · 2009 · 26 citations
    3. Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study Immunological investigations · 2019 · 8 citations
    4. Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with <i>AIRE</i> gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib Clinical and Experimental Dermatology · 2026
    5. BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the <i>AIRE</i> gene mutation treated with ruxolitinib British Journal of Dermatology · 2025
    6. Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice JID Innovations · 2026
    7. Alopecia areata: a review of disease pathogenesis 2018 · 191 citations
    8. Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients Journal of endocrinological investigation · 2021 · 31 citations
    9. Alopecia Areata KARGER eBooks · 2008 · 24 citations
    10. The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant Gene · 2014 · 11 citations
    11. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl 2011 · 6 citations
    12. Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1 Case reports in endocrinology · 2021 · 2 citations
    13. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    14. Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review Biomedicines · 2024
    15. Clinical case of alopecia totalis in pediatric practice Sučasna pedìatrìâ. Ukraïna · 2023
    16. Graft versus host disease–like: A new paraneoplastic syndrome Journal of The American Academy of Dermatology · 2010
    17. Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations Hormone research in paediatrics · 2010 · 62 citations
    18. AIRE Deficiency Leads to the Development of Alopecia Areata‒Like Lesions in Mice 2022 · 2 citations
    19. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1 Endocrinology, diabetes & metabolism case reports · 2020 · 2 citations
    20. Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy Clinical Case Reports · 2024
    21. Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1 Journal of clinical immunology · 2023 · 2 citations
    22. Genetic prediction of male pattern baldness PLoS Genetics · 2017 · 133 citations
    23. Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease 2018 · 26 citations
    24. The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17 ˜The œAmerican journal of pathology · 2011 · 24 citations
    25. CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico Anais Brasileiros de Dermatologia · 2020 · 6 citations
    26. Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study The application of clinical genetics · 2019 · 6 citations
    27. Genetic Polymorphisms of Immunity Regulatory Genes and Alopecia Areata Susceptibility in Jordanian Patients Medicina · 2024 · 1 citations
    28. The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings · 2013 · 23 citations
    29. Association of JAK 1 and JAK 2 gene polymorphism with alopecia areata risk: a case–control genetic study Egyptian Journal of Basic and Applied Sciences · 2025
    30. Autoimmune polyglandular syndrome type 4 – case report Przegląd Dermatologiczny · 2019