Individuals with Down syndrome have widespread immune dysregulation, including an increased risk of autoimmune and autoinflammatory skin conditions, like alopecia areata. The triplication of chromosome 21 causes activation of a branch of the immune system called interferon, known to contribute to autoimmunity…..

People with Down syndrome have a different disease spectrum compared to the typical population, but exactly why this is remains unclear. To begin addressing this, our scientists analyzed blood samples from individuals with Down syndrome. They found dozens of proteins that are consistently deregulated by trisomy 21, including many proteins involved in immune control, the complement cascade, and growth factor signaling…..

It is well known that a third copy of chromosome 21 (trisomy 21) causes Down Syndrome; however, the molecular processes that occur as a result are not well understood. In this landmark publication, our scientists used complementary genomics techniques and transcriptome analyses on multiple cell lines and human blood samples to show that trisomy 21 consistently activates the interferon signaling cascade across a variety of cell types…..