Study of Immune System Disorders and Inborn Errors of Immunity in Children and Adults: Diagnostics and Management

What this Trial Is About

Researchers are studying Inborn Errors of Immunity, a group of inherited diseases caused by problems in the immune system's development or function. The study aims to better understand the clinical, immune system, functional, and genetic features of both children and adults diagnosed with or suspected to have these immune disorders. It focuses especially on patients showing signs of immune system regulation problems and tracks their clinical progress and immune system abnormalities. This observational study gathers information from patients treated under usual medical care. Evaluations include blood tests, detailed immune cell analysis, antibody levels, vaccine response assessments, detection of auto-antibodies, complement protein levels, imaging tests, immune function tests, and genetic testing targeting immune regulation and inherited immune errors. These assessments were done retrospectively and will continue prospectively to collect comprehensive data. Participants undergo evaluations at the start and continue to be monitored over time for immune system changes, infection susceptibility, immune dysregulation, and survival up to one year after diagnosis. Researchers measure various immune and clinical outcomes to understand disease impacts and progression. The study includes both pediatric and adult patients up to 50 years old with confirmed or suspected immune errors and follows their health and immune status over time.

Immunodysregulation As an Expression of Underlying Inborn Errors of Immunity: Implementation of Diagnostics and Management of Pediatric and Adult Patients with Immune System Disorders