Study of Immune System Disorders Called Primary Immunodeficiencies and Healthy Volunteers to Understand Their Causes and Develop Targeted Treatments

What this Trial Is About

Researchers are investigating the underlying causes of primary immunodeficiencies PID, a group of disorders characterized by increased infection risk and abnormal inflammatory responses. The study aims to better understand the cellular and functional characteristics of various PIDs, which is currently not well known. This information may help guide the development of more specific and targeted treatments in the future, including potential gene therapies. Participants include patients diagnosed with different primary immunodeficiencies as well as healthy volunteers serving as control subjects. Biological samples such as stool, urine, blood, tissue biopsies, and bone marrow will be collected and analyzed for anti-microbial activity and inflammatory responses. These analyses will be performed immediately after sample collection or up to 10 years later from frozen specimens. Participants will provide biological specimens for detailed cellular and functional profiling. Researchers will evaluate these samples to identify potential targets for treatments tailored to specific PID pathophysiology. Outcomes include characterizing cellular and functional phenotypes and identifying candidates for future therapeutic approaches. The study includes long-term sample storage and analysis, with involvement lasting as long as samples are stored and assessed.

Pathophysiology of Inborn Immunodeficiencies