JAK inhibition decreases the autoimmune burden in Down syndrome.

ABSTRACT:

Background

Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmunity and severe complications from infections. Although it is well established that T21 causes increased interferon responses and JAK/STAT signaling, elevated autoantibodies, global immune remodeling, and hypercytokinemia, the interplay between these processes, the clinical manifestations of DS, and potential therapeutic interventions remain ill defined.

Methods

We report a comprehensive analysis of immune dysregulation at the clinical, cellular, and molecular level in hundreds of individuals with DS, including autoantibody profiling, cytokine analysis, and deep immune mapping. We also report the interi

SUBMITTER: Rachubinski AL 

PROVIDER: S-EPMC11687933 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature