Genetic Analysis of Immune Disorders
This study aims to understand immune disorders, which are conditions where your body's defense system (immune system) doesn't work correctly. This can lead to problems fighting infections, allergies, or autoimmune diseases like lupus or arthritis. Researchers want to find the genes responsible for these disorders, learn about the health problems they cause, and predict who might develop them or pass them on to their children. You can join if you or a family member has an immune disorder that is thought to have a genetic cause. The study is looking for changes in genes like DOK8, STAT1, GATA2, and STAT3. Success will be measured by finding genetic changes and understanding how they affect the disorder. The current recruitment status is unclear, but the study plans to enroll up to 5000 people.
- Study design
- This is an observational study, meaning researchers will collect information without giving any specific treatments. It plans to include up to 5000 participants.
- What's involved
- You would provide blood samples for genetic testing. This testing would happen once or could be repeated.
- Compensation
- Not stated in the trial record.
- Follow-up
- Not specified.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Genetic Analysis of Immune Disorders
At a glance
Conditions
NCT00001467
Where you'd take part
This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
National Institutes of Health Clinical Center
Bethesda, Marylandno site contact published
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- Gulbu Uzel, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)
Who to contact
Opens a ready-to-send draft in your own email app — review before sending.
What this trial measures
- To search for modifiers of phenotype in subjects with disorders of the immune system in which penetrance and expressivity are variable.blood draw and testing once or can be repeated
Greater understanding of the variable penetrance and expressivity of modifiers of phenotype in subjects with disorders of the immune system
- genetic testing for known or suspected mutations related to primary immune deficienciesblood draw and testing once or can be repeated
diagnosis of genetic mutations or deficiencies causing rare primary immune diseases under study