Systemic single-cell analysis of GPP reveals treatment-responsive and persistent immune signatures

Although biologic therapies targeting the IL-23/Th17 axis have demonstrated clinical efficacy, the systemic immune alterations associated with disease activity and treatment response remain incompletely understood, particularly in pediatric familial GPP associated with IL36RN mutations.

In this study, we performed single-cell RNA sequencing of peripheral blood mononuclear cells (PBMCs) from two pediatric siblings with familial GPP before and after biologic treatment, together with two unaffected mutation-negative sibling controls. Single-cell transcriptomic profiling was used to characterize immune-cell-specific alterations associated with disease and treatment response.