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Article

The role of AIRE in human autoimmune disease.

Nature reviews. Endocrinology - 1 Jan 2011

Akirav Eitan M, Ruddle Nancy H, Herold Kevan C

Abstract excerpt

The autoimmune regulator (AIRE) gene encodes a transcription factor involved in the presentation of tissue-restricted antigens during T-cell development in the thymus. Mutations of this gene lead to type 1 autoimmune polyglandular syndrome (APS-1), also termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, which is characterized by the clinical presentation of at least two of a...

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Source

Identifiers

PMID: 21102544
DOI: 10.1038/nrendo.2010.200

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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The role of AIRE in human autoimmune disease.PMID 21102544Read ↗

Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations.Semantic proximity Read ↗

Disruption of immunological tolerance: role of AIRE gene in autoimmunity.Semantic proximity Read ↗

Update on Aire and thymic negative selection.Semantic proximity Read ↗

Expression and function of the autoimmune regulator (Aire) gene in non-thymic tissueSemantic proximity Read ↗

APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility FactorsSemantic proximity Read ↗

AIRE deficiency, from preclinical models to human APECED disease.Semantic proximity Read ↗

AIRE expands: new roles in immune tolerance and beyond.Semantic proximity Read ↗

Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.Semantic proximity Read ↗

Normal Thymic Architecture and Negative Selection Are Associated with <i>Aire</i> Expression, the Gene Defective in the Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)Semantic proximity Read ↗

Where AIRE we now? Where AIRE we going?Semantic proximity Read ↗

The development of mouse APECED models provides new insight into the role of AIRE in immune regulation.Semantic proximity Read ↗

Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model.Semantic proximity Read ↗

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