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Article

Limited penetrance of dominantly inherited AIRE variants in a population-based cohort.

Human molecular genetics - 9 Jun 2026

Ramchand Suraj N, Leech Jacques Murray, Sharp Luke N, Bonfield Georgia, Luckett Amber M, Weedon Michael N, Patel Kashyap A, Hawkes Gareth, Johnson Matthew B

Abstract excerpt

Pathogenic variants in the autoimmune regulator gene (AIRE) cause Autoimmune polyendocrine syndrome type 1 (APS-1). The majority of disease-causing variants are inherited recessively, while several heterozygous AIRE variants have been reported in the literature as having dominant-negative or partially inhibitory effects. Additionally, some heterozygous AIRE variants have been implicated in milder and more common...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42262224
DOI: 10.1093/hmg/ddag047
PMCID: PMC13248555

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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