Single-cell transcriptional profiling reveals aberrant gene expression patterns and cell states in autoimmune diseases

Abstract

Multiple sclerosis(MS), primary Sjögren syndrome (pSS), and systemic lupus erythematosus (SLE) share numerous clinical symptoms and serological characteristics. We analyzed 153550 cells of scRNA-seq data of 17 treatment-naive patients (5 MS, 5 pSS, and 7 SLE) and 10 healthy controls, and we examined the enrichment of biological processes, differentially expressed genes (DEGs), immune cell types, and their subpopulations, and cell-cell communication in peripheral blood mononuclear cells (PBMCs). The percentage of B cells, megakaryocytes, monocytes, and proliferating T cells presented significant changes in autoimmune diseases. The enrichment of cell types based on gene expression revealed an elevated monocyte. MIF, MK, and GALECTIN signaling networks were obvious differences in autoimmune diseases. Taken together, our analysis provides a comprehensive map of the cell types and states of ADs patients at the single-cell level to understand better the pathogenesis and treatment of these ADs.

Keywords: Autoimmune diseases; Cell states; Differential expression genes; Gene ontologies; Single-cell RNA-sequencing.