Aberrant thymic architecture and enhanced interferon signaling in Down syndrome

It is well established that individuals with Down syndrome (DS) have an elevated risk of autoimmune disease, particularly celiac disease, type 1 diabetes, and autoimmune hypothyroidism. DS thymi are often characterized by alterations to thymic epithelial cells (TECs), thymocytes, and functional immune cell subsets resulting in diminution of the cortex, expansion of the medulla, and concurrent enlargement of highly keratinized Hassall’s corpuscles. Yet, how these structural and compositional changes to the thymus may contribute to the propensity for autoimmune disease in DS is still unclear. To better understand the relationship between thymic development and immune dysregulation in the context of DS, we created a cell atlas from single cell RNA-sequencing (scRNA-seq) and spatial transcriptomics of age-matched thymi from infants with and without DS.

• Type: RNASeq
• Archive: European Genome-phenome Archive (EGA)