Type I interferon signature does not correlate with disease activity in Blau syndrome

Blau syndrome is a rare autoinflammatory disorder caused by NOD2 mutations, characterized by granulomatous arthritis, uveitis, and dermatitis. While type I interferon signatures are biomarkers in several autoinflammatory diseases, their role in Blau syndrome remains unclear. We assessed the interferon score in 11 patients with Blau syndrome and correlated it with disease activity. Our results demonstrate that type I interferon signatures were detected in only a minority of patients and showed no significant correlation with clinical disease activity, inflammatory markers, or treatment response. These findings suggest that type I interferon signatures are not useful biomarkers for disease monitoring in Blau syndrome, highlighting the need to identify alternative biomarkers reflecting NOD2-mediated inflammatory pathways.