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Article

[The challenge for dermatologists of early APECED diagnosis].

Annales de dermatologie et de venereologie - 1 Apr 2014

Puzenat E, Bellaud G, Saugier-Veber P, Crémillieux C, Mignot B, Humbert P, Aubin F

Abstract excerpt

BACKGROUND: Polyglandular auto-immune syndrome type 1 (PAS-1) or auto-immune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder linked to auto-immune regulator (AIRE) gene mutations. Herein, we report the case of a 3-year-old boy with APECED emphasizing the wide phenotypic variability and the extent of skin lesions. PATIENTS AND METHODS: A 3-year-old boy with a...

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Identifiers

PMID: 24703644
DOI: 10.1016/j.annder.2014.01.012

Genes

AIRE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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