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Article

[AIRE gene mutation in polyglandular syndrome type 1].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Jun 2006

Martínez López Ma M, González Casado I, Alvarez Doforno R, Delgado Cerviño E, Gracia Bouthelier R

Abstract excerpt

Autoimmune polyglandular syndrome type 1 (APS-1) is an autosomal recessive disorder characterized by chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and primary adrenal insufficiency. It has recently been associated with mutations of a single gene found on chromosome 21, designated AutoImmune Regulator (AIRE). We report two patients with APS-1 referred to our hospital for evaluation. The first...

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Source

Identifiers

PMID: 16792967
DOI: 10.1157/13089925

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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