Exploring the Clinical Features and Factors Related to Efficacy in Blau Syndrome: A Retrospective Observational Study

Blau Syndrome (BS) is a monogenic systemic autoinflammatory disease characterized by dominantly inherited granulomatous inflammation due to mutations in nucleotide-binding oligomerization domain 2 gene (NOD2). Traditionally associated with a clinical trial of arthritis, dermatitis, and uveitis, recent observations have expanded its recognized manifestations to include systemic inflammatory features, skin or cutaneous vasculitis, and multi-organ involvement. Despite the rarity of BS, significant advances have been made through multi-center collaborations. Current studies, primarily retrospective, highlight the clinical diversity of BS, including cases with disease-causing NOD2 mutations but lacking the typical clinical trial . In response to gaps in understanding of BS's pathogenic mechanisms, the investigators initiated a retrospective observational study to collect detailed clinical data and perform whole exome sequencing, specifically targeting NOD2 mutations and STAT3 rs2293152 phenotypic variations to explore their relationships with therapeutic responses.