Article

High-Resolution Transcriptional Impact of AIRE: Effects of Pathogenic Variants p.Arg257Ter, p.Cys311Tyr, and Polygenic Risk Variant p.Arg471Cys

2024-12-10

Abstract excerpt

The Autoimmune Regulator, AIRE, acts as a transcriptional regulator in the thymus, facilitating ectopic expression of thousands of genes important for the process of negative T-cell selection and immunological tolerance to self. Pathogenic variants in the gene encoding AIRE are causing Autoimmune polyendocrine syndrome type 1 (APS-1), defined by multiorgan autoimmunity and chronic mucocutaneous candidiasis. More r...

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Literature Corpus work: 56f836f4-19bc-5ae6-a744-5bf2dabda768
DOI: 10.1101/2024.12.09.627575

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