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

Abstract excerpt

Background: Aicardi-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 drives excessive type I interferon (IFN) production. Objective: variants in protein expression and dysregulation of...

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