De novo variants in immune regulatory genes in Down syndrome regression disorder

Abstract excerpt

BACKGROUND: Down Syndrome Regression Disorder (DSRD) is a rare and poorly understood disorder of the central nervous system, characterized by acute or subacute neuropsychiatric symptoms in previously healthy individuals with Down syndrome (DS). Many patients exhibit immunotherapy-responsiveness, indicative of immune dysregulation as a potential underlying etiology. While hypotheses are emerging regarding the role...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Down syndrome and intellectual disability research
• Share to Genomics and Rare Diseases
• Share to Immunodeficiency and Autoimmune Disorders