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Article

Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.

The Journal of clinical endocrinology and metabolism - 1 Feb 2002

Meloni Alessandra, Perniola Roberto, Faà Valeria, Corvaglia Enrico, Cao Antonio, Rosatelli Maria Cristina

Abstract excerpt

In this study, we have carried out molecular analysis of the AIRE (autoimmune regulator) gene in 11 patients (from 8 families) affected by autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, originating from a restricted area of Southern Italy (the Salento peninsula in Puglia). Of the 16 mutant AIRE alleles from the 8 probands studied, 12 carried a missense mutation (W78R in 9, P539L in 2, and P252L...

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Source

Identifiers

PMID: 11836330
DOI: 10.1210/jcem.87.2.8209

Genes

AIRE

Variants

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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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