Single-cell analysis reveals immune cell abnormalities underlying the clinical heterogeneity of patients with systemic sclerosis
The clinical heterogeneity in systemic autoimmune diseases often complicates the management of individual patients1. Systemic sclerosis (SSc) is primarily characterized by Raynaud’s phenomenon and skin sclerosis, with an estimated global prevalence of approximately one million individuals. Patients with SSc present with a particularly diverse range of organ manifestations2. These complications directly impact the daily activities of SSc patients and are associated with a poor prognosis.
The specific organs affected vary between patients; 50–65% develop interstitial lung disease (ILD), approximately 50% develop digital ulcers, and 1–14% develop scleroderma renal crisis (SRC), which is the most severe acute organ complication leading to end-stage renal disease and even death.
While vascular damage and tissue fibrosis due to immune dysregulation play a central role in the pathogenesis of SSc, the immunological abnormalities underlying the clinical heterogeneity of the disease and the diversity of organ involvement have not been sufficiently investigated.
Therefore, it is of great interest to explore the variation of immune abnormalities underlying the diversity of organ involvement in SSc.
Single-cell RNA sequencing (scRNA-seq) is a technique that comprehensively captures the diversity of individual cells. Since 2018, scRNA-seq studies of SSc patient samples have provided important insights into the pathology of the disease.