Impaired Type I IFN Immunity Due to Autoantibodies or a Genetic Defect a Prospective National Cohort

What this Trial Is About

Researchers are conducting a national, multicenter prospective study to understand how genetic defects and autoantibodies against type I interferons IFNs affect the immune response to infections, especially severe viral diseases like COVID-19. This study focuses on adults who either have inborn errors of immunity IEI impairing type I IFN responses or carry neutralizing autoantibodies against type I IFNs, which have been linked to severe illness and increased mortality in COVID-19. The aim is to track infectious, autoimmune, and cancer-related events to improve prevention and management strategies for these patients. The study includes adults with these immune characteristics who may be patients with past or current disease or healthy individuals such as blood donors or relatives of affected patients. Participants will have yearly visits to clinical centers for blood sampling and medical history updates, including investigations of immune markers, autoantibodies, and genetic analyses. Additional visits occur if participants experience infections, autoimmune flare-ups, cancer diagnoses, or COVID-19 infections, with detailed blood tests and teleconsultations. Controls without these immune abnormalities will be matched and followed through questionnaires and health data linkage. Participants undergo an initial visit to collect demographic information, medical and family history, and blood samples for detailed immune and genetic tests, including whole-exome or whole-genome sequencing. Follow-up visits occur annually for up to four years, involving clinical assessments and blood sampling to measure autoantibody levels and immune function. Clinical events and healthcare use will be tracked through national health data, and the main outcomes include measuring autoantibody levels and their neutralizing activity over time. This long-term monitoring aims to reveal factors influencing disease risk and immune changes in this population.

Impaired Type I IFN Immunity Due to Autoantibodies or a Genetic Defect: a Prospective National Cohort