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Article

A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.

Molecular medicine reports - 1 Aug 2020

Zheng Wen-Bin, Li Lu-Jiao, Zhao Di-Chen, Wang Ou, Jiang Yan, Xia Wei-Bo, Li Mei

Abstract excerpt

Autoimmune polyendocrine syndrome type 1 (APS‑1) is a rare inherited autoimmune disease, characterized by a classic triad, including chronic mucocutaneous candidiasis, primary adrenocortical insufficiency and hypoparathyroidism. The present study investigated phenotypes and pathogenic variants in a Chinese woman with non‑classical APS‑1. Disease‑associated variants in a patient with APS‑1 were identified via...

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Source

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Identifiers

PMID: 32627016
DOI: 10.3892/mmr.2020.11227
PMCID: PMC7339480

Provenance

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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