Article

Systematic and proactive evaluation of AIRE missense variant effects

2025-11-18

Abstract excerpt

Pathogenic variants in the Autoimmune Regulator (AIRE) gene cause Autoimmune Polyendocrine Syndrome Type 1 (APS-1), a rare primary immunodeficiency disease with symptoms including hypoparathyroidism, adrenal insufficiency, and chronic mucocutaneous candidiasis. AIRE increases the expression and presentation of tissue-specific genes expressing 'self' antigens in the developing T cell niche, thus triggering the elim...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 955aa414-9838-5da8-9e30-976951e334ad
DOI: 10.1101/2025.11.18.688830

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Systematic and proactive evaluation of AIRE missense variant effectsDOI 10.1101/2025.11.18.688830Read

High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471CysSemantic proximity Read

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

High-Resolution Transcriptional Impact of AIRE: Effects of Pathogenic Variants p.Arg257Ter, p.Cys311Tyr, and Polygenic Risk Variant p.Arg471CysSemantic proximity Read

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

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.Semantic proximity Read

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.Semantic proximity Read

Autoimmune polyglandular syndrome type 1 and the autoimmune regulator.Semantic proximity Read

Population genetics and functions of the autoimmune regulator (AIRE).Semantic proximity Read

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypesSemantic proximity Read

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.Semantic proximity Read

A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1.Semantic proximity Read

Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report.Semantic proximity Read