High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys

High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys

IntroductionThe 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 A...

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Bibliographic Details
Main Authors: Amund Holte Berger, Bergithe Eikeland Oftedal, Anette Susanne Bøe Wolff, Eystein Sverre Husebye, Per Morten Knappskog, Eirik Bratland, Stefan Johansson
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Immunology
Subjects:
AIRE
Autoimmune polyendocrine syndrome type
APECED
Autoimmune primary adrenal insufficiency
type 1 diabetes (T1D)
pernicious anemia
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1572789/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2025.1572789/full

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