Constructing pediatric rheumatologic disease atlas 4759

Abstract Description Pediatric rheumatic diseases encompass a diverse group of immunological disorders that are difficult to diagnose and manage due to limited understanding and insufficient treatment strategies. We established a cohort of over 100 pediatric rheumatic patients in South Korea, encompassing diseases such as chronic recurrent multifocal osteomyelitis (CRMO), juvenile idiopathic arthritis (JIA), and Takayasu arteritis (TA), along with healthy controls (HC). Using single-cell RNA sequencing, we constructed a Pediatric Rheumatic Disease Atlas, capturing the cellular and molecular landscapes of these diseases. Our initial focus on CRMO, the most severe form of chronic nonbacterial osteomyelitis, revealed increased expression of IL1B in CD14+ monocytes, accompanied by a higher frequency of these cells compared to HC. Pathway analysis implicated the NLRP3 inflammasome and related genes, such as PTPN22 and MAPK8, as potential drivers of IL-1B expression, highlighting their role in disease pathogenesis. This analysis is being expanded across other pediatric rheumatic diseases, uncovering disease-specific immune signatures and novel cell types. Our atlas represents a groundbreaking resource for understanding the distinct immunological mechanisms of pediatric rheumatic diseases. Topic Categories Translational and Interventional Immunology (TI)