Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome

Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome

BackgroundAicardi-Goutières syndrome (AGS) is a rare monogenic type I interferonopathy characterized by dysregulated inflammation and tissue damage that primarily affects the central nervous system. AGS is genetically diverse, with pathogenic variants across multiple genes, including TREX1, which dr...

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Bibliographic Details
Main Authors: Tamar Rubin, Stéphane Bernier, Lily Siok Hoon Lim, Michael S. Salman, Edward Leung, Aziz Mhanni, Sandra Marles, Cheryl Greenberg, Anna Perez, Yichun Sun, Isabelle Angers, Donald C. Vinh, Lucie Roussel
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Immunology
Subjects:
Aicardi-Goutières syndrome (AGS)
type I interferon
TREX1 gene
autoinflammatory disorders
cGAS-STING pathway
Inuit population
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1557632/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2025.1557632/full

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