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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 Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations Hormone research in paediatrics · 2010 · 62 citations
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