Article

The Putative Role Of TIM-3 Variants In Polyendocrine Autoimmunity: Insights From a WES Investigation

2024-08-30

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 regulatory (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, variab...

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Literature Corpus work: ccab7dd2-ce4c-501a-bb5f-29f9fbc468ae
DOI: 10.20944/preprints202408.2202.v1

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