Type I Interferon Dysregulation in Down Syndrome

Bogunovic, Dusan

Summary​

Down syndrome is caused principally by chromosome 21 trisomy, resulting in extra copies of the genes encoding the interferon (IFN-I) receptors, IFNAR1 and IFNAR2. Signaling through these IFN-I receptors initiates the highly potent antiviral and inflammatory functions of the IFN-I response. This study aims to investigate the effects of the presence of additional copies of IFNAR1 and IFNAR2 in Down syndrome, on the IFN-I response, and the contribution of these extra gene copies to the pathogenesis of Down syndrome.

Down Syndrome Publications​