Genomic Insights into Pediatric Intestinal Inflammatory and Eosinophilic Disorders using Single-sell RNA-sequencing

• DOI: 10.1101/2023.09.26.23295909
• Publication Date: 2023-09-27T04:10:20Z
• Authors: Marissa R. Keever...; Lisa Harvey; Veronica Williams; Carrie A. Vyhlidal; Atif A. Ahmed; Jeffery J. Johnston; Daniel A. Louiselle; Elin Grundberg; Tomi Pastinen; Craig A. Friesen; Rachel Chevalier; Craig Smail; Valentina Shakhno...
• Keywords: Eosinophilic Esophagitis; Immune Dysregulation

Abstract Chronic inflammation of the gastrointestinal tissues underlies inflammatory disorders, leading to tissue damage and a constellation painful debilitating symptoms. These disorders include bowel diseases (Crohn’s disease ulcerative colitis), eosinophilic (eosinophilic esophagitis duodenitis). Gastrointestinal can often present with overlapping symptoms necessitating use invasive procedures give an accurate diagnosis. This study used peripheral blood mononuclear cells from individuals Crohn’s disease, colitis, esophagitis, duodenitis better understand alterations transcriptome these identify potential markers active within patients that may be useful in Single-cell RNA-sequencing was performed on isolated samples pediatric diagnosed including duodenitis, controls histologically healthy tracts. We identified 730 (FDR < 0.05) differentially expressed genes between across eight immune cell types. There were common patterns among GI such as widespread upregulation MTRNR2L8 types, many showed distinct dysregulation different compared controls, XIST types colitis Th2-associated disorders. findings indicate both which provide insight for patients.