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Article

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1.

Cold Spring Harbor molecular case studies - 1 Jun 2018

Sanford Erica, Watkins Kelly, Nahas Shareef, Gottschalk Michael, Coufal Nicole G, Farnaes Lauge, Dimmock David, Kingsmore Stephen F

Abstract excerpt

Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. APS-1 is classically characterized by a triad of chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenocortical...

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Source

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Identifiers

PMID: 29437776
DOI: 10.1101/mcs.a002485
PMCID: PMC5983174

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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Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1.PMID 29437776Read ↗

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