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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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research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl

6 citations , January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

research Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with AIRE gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib

January 2026 in “Clinical and Experimental Dermatology”

In this case report, complete hair regrowth was observed in a patient with autoimmune-related alopecia areata after treatment with a Janus kinase inhibitor, suggesting its potential effectiveness for both genetic and sporadic forms of the condition.

research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report

January 2026 in “Genes”

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review

January 2024 in “Biomedicines”

This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.

research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease

26 citations , June 2018 in “The journal of immunology/The Journal of immunology”

This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.

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