Population-level single-cell genomics reveals conserved gene programs in systemic juvenile idiopathic arthritis.

ABSTRACT: Systemic autoimmune and autoinflammatory diseases are characterized by genetic and cellular heterogeneity. While current single-cell genomics methods provide insights into known disease subtypes, these analysis methods do not readily reveal novel cell-type perturbation programs shared among distinct patient subsets. Here, we performed single-cell RNA-Seq of PBMCs of patients with systemic juvenile idiopathic arthritis (SJIA) with diverse clinical manifestations, including macrophage activation syndrome (MAS) and lung disease (LD). We introduced two new computational frameworks called UDON and SATAY-UDON, which define patient subtypes based on their underlying disrupted cellular programs as well as associated biomarkers or clinical features. Among twelve independently identified subtypes, t

SUBMITTER: Verweyen EL 

PROVIDER: S-EPMC10645394 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature