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Article

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

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2011

Kollios Konstantinos, Tsolaki Anastasia, Antachopoulos Charalampos, Moix I, Morris Michael A, Papadopoulou Maria, Roilides Emmanuel

Abstract excerpt

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) or autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disease caused by mutations of the AutoImmune REgulator (AIRE) gene, an important mediator of tolerance to self-antigens. It is characterized by two out of three major components: chronic mucocutaneous candidiasis, hypoparathyroidism and Addison's...

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Identifiers

PMID: 21932610
DOI: 10.1515/jpem.2011.012

Genes

AIRE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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