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Article

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

Immunogenetics - 1 Feb 2024

Vitozzi Susana, Correa Silvia Graciela, Lozano Alejandro, Fernández Eduardo Jorge, Quiroga Rodrigo

Abstract excerpt

The immune regulator gene AIRE plays an essential role in the establishment of immune tolerance and the prevention of autoimmunity. This transcription factor plays a critical role in promoting self-tolerance in the thymus by regulating the expression of a large number of self-antigens that share the common feature of being tissue-restricted in their expression pattern in the periphery. Dysfunction of AIRE in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38030802
DOI: 10.1007/s00251-023-01324-6

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.

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