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Article

Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies.

Frontiers in immunology - 1 Jan 2023

Paldino Giorgia, Faienza Maria Felicia, Cappa Marco, Pietrobattista Andrea, Capalbo Donatella, Valenzise Mariella, Lampasona Vito, Cudini Annamaria, Carbone Elena, Pagliarosi Olivia, Maggiore Giuseppe, Salerno Mariacarolina, Betterle Corrado, Fierabracci Alessandra

Abstract excerpt

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare monogenic disease determined by biallelic mutations in AIRE gene, which encodes a transcription factor essential for central immune tolerance. Classic diagnosis is determined by the presence of two of the main APECED clinical diseases: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and...

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Identifiers

PMID: 37457714
DOI: 10.3389/fimmu.2023.1172369
PMCID: PMC10348686

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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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