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Article

APECED mutations in the autoimmune regulator (AIRE) gene.

Human mutation - 1 Sept 2001

Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis S E, Scott H S, Krohn K

Abstract excerpt

Autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED) is a rare recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) gene. APECED is characterized by variable combinations of endocrine autoimmune diseases such as Addison's disease, hypoparathyroidism, and type 1 diabetes. The AIRE protein contains motifs suggestive of a transcription regulator and can activate...

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Source

Identifiers

PMID: 11524731
DOI: 10.1002/humu.1176

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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