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    Did you mean Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy?
    Glossary Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

    rare genetic disorder causing multiple endocrine issues, chronic fungal infections, and skin abnormalities

    Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), also known as Autoimmune Polyendocrine Syndrome Type 1 (APS-1), is a rare genetic disorder characterized by the dysfunction of multiple endocrine glands, chronic mucocutaneous candidiasis (persistent fungal infections of the skin, nails, and mucous membranes), and ectodermal dystrophy (abnormalities in the skin, teeth, and nails). It is caused by mutations in the AIRE gene, which plays a crucial role in immune system regulation, leading to the body's immune system attacking its own tissues.

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    1. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl 2011 · 6 citations
    2. 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
    3. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    4. Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review Biomedicines · 2024
    5. Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease 2018 · 26 citations
    6. 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
    7. Clinical case of alopecia totalis in pediatric practice Sučasna pedìatrìâ. Ukraïna · 2023
    8. Novel and recurrent mutations in the <i>AIRE</i> gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients Clinical genetics · 2009 · 26 citations
    9. Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1 Journal of clinical immunology · 2023 · 2 citations
    10. Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients Journal of endocrinological investigation · 2021 · 31 citations
    11. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1 Endocrinology, diabetes & metabolism case reports · 2020 · 2 citations
    12. The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity Journal of Allergy and Clinical Immunology · 2010 · 55 citations
    13. Autoimmune polyglandular syndrome type 4 – case report Przegląd Dermatologiczny · 2019
    14. Alopecia Areata: A tissue specific autoimmune disease of the hair follicle Autoimmunity Reviews · 2005 · 185 citations
    15. Autoimmune Liver Disease In Children Pediatric Oncall · 2021
    16. Alopecia in preexisting autoimmune thyroid disease in family medicine practice: can hyperprolactinemia induce hair loss? A case report Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.) · 2021 · 1 citations
    17. Alopecia Areata: a Comprehensive Review of Pathogenesis and Management Clinical Reviews in Allergy & Immunology · 2017 · 99 citations
    18. Alopecia Areata InTech eBooks · 2017 · 1 citations
    19. Alopecia Areata The New England Journal of Medicine · 2012 · 421 citations
    20. Hair Follicle Immune Privilege Revisited: The Key to Alopecia Areata Management 2017 · 102 citations
    21. Alopecia Areata KARGER eBooks · 2008 · 24 citations
    22. Alopecia Areata: Current Review Dermatoz · 2021
    23. Alopecia Areata and Medical Modulation of the Intrinsic Property of Melanin to Transform Light Into Chemical Energy Through the Water Dissociation Archives of clinical and biomedical research · 2017
    24. Alopecia areata: a review on diagnosis, immunological etiopathogenesis and treatment options Clinical and Experimental Medicine · 2021 · 56 citations
    25. Current evaluation of amenorrhea Fertility and Sterility · 2006 · 38 citations
    26. ALOPECIA AREATA-A CLINICAL ANALYSIS Journal of Evolution of Medical and Dental Sciences · 2013 · 1 citations
    27. The role of lymphocytes in the development and treatment of alopecia areata Expert Review of Clinical Immunology · 2015 · 60 citations
    28. The clinical spectrum of parathyroid disease Journal of The American Academy of Dermatology · 1981 · 8 citations
    29. Current evaluation of amenorrhea Fertility and Sterility · 2008 · 78 citations
    30. The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1 New England Journal of Medicine · 2024 · 71 citations