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Article

A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Journal of endocrinological investigation - 1 Oct 2014

Jin Ping, Zhang Qin, Dong Chang-Sheng, Zhao Shao-Li, Mo Zhao-Hui

Abstract excerpt

BACKGROUND: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive disease due to mutations in the autoimmune regulator (AIRE) gene, which encodes a transcription factor that induces the expression of peripheral tissue-specific antigens in medullary thymic epithelial cells. AIM: The purpose of this study was to identify the underlying genetic cause in a...

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Identifiers

PMID: 25064028
DOI: 10.1007/s40618-014-0120-7

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.

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