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GlossaryAutoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED Syndrome)

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 Clinical Case of Alopecia Totalis in Pediatric Practice

May 2023 in “Sučasna pedìatrìâ. Ukraïna”

An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.

research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

62 citations, January 2010 in “Hormone research in paediatrics”

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

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

January 2024 in “Biomedicines”

The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.

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

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”

AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.

research The Autoimmune Regulator (AIRE), 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

24 citations, March 2011 in “The American journal of pathology”

AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.

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