Novel Genetic Disorders of the Immune System
Recruiting now
Conditions studied: PI3KCD, CTLA4, STAT3GOF, MAGT1
In brief
Background: \- The immune system helps the body fight infection and disease. People with immune system problems can get infections, blood disorders, and other health problems. Researchers want to learn more about the immune system, like what causes it to not work properly. Objectives: \- To evaluate people with certain types of immune system disorders. Eligibility: \- Adults and children with an immune disorder or symptoms of one, and their relatives. Some disorders are not included in this study. Design: * Researchers will review participants medical records. * Participants may mail in a blood or saliva sample, or be evaluated at the clinic. At the clinic, they may have a medical history, physical exam, blood tests, and imaging scans (with dye given through a needle in the arm). They may have genetic testing done on a sample of blood, saliva, hair, or nail clipping. * Participants may choose to have a skin biopsy. Up to 2 skin samples will be taken from their arm, back, or other area. A biopsy punch is inserted into the skin and rotated. A small circle of skin is removed. * Participants 10 and older may also choose to have leukapheresis. Blood is taken through a needle in one arm. It passes through a machine that separates the white blood cells. The rest of the blood is returned by needle in the other arm. * Researchers may recommend medicines, but no treatments are being studied. * Participants may be invited to return for visits over several years. At those visits, they may repeat some or all of the above tests. Or they may mail in blood or other samples. They may also send medical records.
Key facts
- Study ID
- NCT02257892
- Run by
- National Institute of Allergy and Infectious Diseases (NIAID)
- People needed
- 500
- Starts
- 2014-10-22
- Expected to finish
- 2026-08-30
- Last updated by the study team
- 2026-07-28
Who can join
Age: 3 and older, up to 99. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Patients will be excluded for any of the following:
- Known genetic disorders that are already well characterized, such as severe combined immunodeficiency (SCID), chronic granulomatous disease (CGD), etc., and those in which we do not have an enduring research interest in the LCIM.
- Patients with unknown immune disorders will be excluded if they have received chemotherapy within the last 6 months for a malignancy or have infections such as HIV or mycobacterial infections.
- Severe clinical illness requiring highly specialized teams and institutions. The NIH may not be able to provide appropriate care for certain referred cases. The Principal Investigator (PI) may determine that the patient is eligible for enrollment but ineligible for admission to the Clinical Center. Patients and relatives with certain obstetric issues may pose a safety risk for travel and evaluation here. Eligibility for this group will be determined on a case by case basis by the PI.
- Patients with well-defined autoimmune conditions such as systemic lupus erythematosus (SLE), Hashimoto s thyroiditis, Addison s disease, Graves disease, sarcoidosis and rheumatoid arthritis, among others.
- Blood relatives will be excluded for the following:
- Any condition which in the opinion of the investigator may interfere with evaluation of an immune system abnormality that is the subject of study under this protocol.
Where it is running
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)
Full record on ClinicalTrials.gov
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