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Article

The Putative Role of TIM-3 Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation.

International journal of molecular sciences - 12 Oct 2024

Ariolli Andrea, Agolini Emanuele, Mazza Tommaso, Petrizzelli Francesco, Petrini Stefania, D'Oria Valentina, Cudini Annamaria, Nardella Caterina, Pesce Vanessa, Comparcola Donatella, Cappa Marco, Fierabracci Alessandra

Abstract excerpt

Autoimmune polyglandular syndrome (APS) comprises a complex association of autoimmune pathological conditions. APS Type 1 originates from loss-of-function mutations in the autoimmune regulator (AIRE) gene. APS2, APS3 and APS4 are linked to specific HLA alleles within the major histocompatibility complex, with single-nucleotide polymorphisms (SNPs) in non-HLA genes also contributing to disease. In general,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 39456777
DOI: 10.3390/ijms252010994
PMCID: PMC11506967

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