Nerac

Type I interferonopathies are rare genetic disorders causing inflammation and affecting mainly the central nervous system, with common joint problems and occasional blood or immune system issues. These diseases often begin in childhood but can also start in adulthood and are resistant to usual immunosuppressive treatments. Researchers aim to better understand how these conditions develop over time in both children and adults to identify diagnostic and monitoring biomarkers and improve future therapies. This observational study includes patients with genetically confirmed type I interferonopathy who are part of a social security system. The study will follow patients from 2025 to 2045, collecting information to characterize disease progression, identify genotype-related immune factors, discover biomarkers for diagnosis and prognosis, and monitor treatment responses based on patient phenotypes and genotypes. Participants will be observed over many years with regular assessments to track how their condition changes and how they respond to treatments. The main focus is on understanding the natural history of the disease by reviewing clinical features, biological markers, and genetic information. This long-term follow-up will help researchers define patient subgroups and guide more personalized treatment approaches in the future.