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

ABSTRACT:

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 of interferon signaling in DSRD and other autoimmune conditions associated with DS, it is unclear why a small subset of individuals with DS develop DSRD. The aim of this study was to investigate genes of immune regulation in persons with DSRD.

Methods

This study included individuals with DSRD aged 10-30 years with trio exome sequencing performed during the diagnostic

SUBMITTER: Jafarpour S 

PROVIDER: S-EPMC11319504 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature