Nerac

Type I interferonopathies are rare genetic autoinflammatory disorders that mainly begin in childhood but can also start in adulthood. These diseases cause significant health problems and are resistant to standard immunosuppressive treatments. They primarily affect the central nervous system and often involve joints, with occasional blood-related issues like low blood cell counts or weakened immune function. Researchers aim to understand how these diseases progress over time in both children and adults to help identify markers for diagnosis and prognosis and to better characterize the variety of interferonopathies. This research focuses on tracking the natural history of type I interferonopathies in patients confirmed by genetic testing. The goal is to gather detailed information about disease evolution to uncover underlying mechanisms and find biomarkers related to disease activity. Ultimately, the study seeks to classify patient subgroups and develop personalized treatment options that can improve future clinical trials. Participants will be followed over a long period from 2025 to 2045 to monitor disease progression. The main outcome measure is the characterization of how type I interferonopathies develop in pediatric and adult patients. Throughout the study, data will be collected to better understand the clinical course, helping researchers propose targeted therapies and improve patient care in the future.