Actively Recruiting
Novel Genetic Disorders of the Immune System
Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-04-24
500
Participants Needed
1
Research Sites
618 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Novel Genetic Disorders of the Immune System
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients and relatives aged 0 to 99 years, including pregnant and breastfeeding women
- Patients over 2 years old in stable condition and meeting weight requirements can be physically evaluated at NIH Clinical Center
- Willingness to allow storage of blood, saliva, and other tissue samples for future medical research
- Willingness to participate in genetic testing and allow secure sharing of genetic information
- Priority given to individuals with family history of immune dysfunction among first- or second-degree relatives
- NIH employees are eligible
- Pregnant or breastfeeding women can enroll as probands or controls
- Pediatric patients and healthy pediatric relatives are eligible with restrictions to study natural history and support clinical care
- Patients must have an identified genetic basis for an immune disorder or symptoms of immune dysregulation or immunodeficiency
- Patients must have a primary physician outside NIH and provide a letter or clinical summary documenting relevant health history
You will not qualify if you...
- Known well-characterized genetic disorders like severe combined immunodeficiency or chronic granulomatous disease
- Patients who had chemotherapy within last 6 months for malignancy
- Patients with infections like HIV or mycobacterial infections
- Patients with severe illness requiring specialized care not available at NIH
- Patients with obstetric issues that pose safety risks for travel and evaluation
- Patients with well-defined autoimmune diseases such as systemic lupus erythematosus, Hashimoto's thyroiditis, Addison's disease, Graves disease, sarcoidosis, or rheumatoid arthritis
- Blood relatives with conditions that may interfere with evaluation of the immune abnormality under study
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
A
Alanvin D Orpia, R.N.
CONTACT
V
V. Koneti Rao, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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