Actively Recruiting
The Mechanistic Biology of Primary Immunodeficiency Disorders
Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-04-29
2500
Participants Needed
2
Research Sites
1178 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: Primary immunodeficiency disorders, or PIDs, are diseases that weaken the immune system. This makes it easier for a person to get sick. Some PIDs are mild and may not be diagnosed until later in life. Other kinds are severe and can be identified shortly after birth. Researchers want to learn more about PIDs by comparing data from relatives and healthy volunteers to people with a PID. Objective: To learn more about PIDs, including their genetic causes. Eligibility: People ages 0-90 with a PID or their healthy biological relatives the same ages Healthy volunteers ages 18-75 Design: Participants will be screened with a medical history, physical exam, and HIV blood test. They may have a pregnancy test. Participants may repeat the screening tests. Blood taken at screening will be used for genetic tests and research tests. Participants will be told test results that affect their health. Some blood will be stored for future research. Adult participants with a PID may have a small piece of skin removed. The area will be numbed. A small tool will take a piece of skin about the size of a pencil eraser. Researchers may collect fluid or tissue samples from PID participants regular medical care. They will use them for research tests. Participants with a PID will have 3 follow-up visits over 10 years (for infants, 2 years). Visits will include a physical exam, medical history, and blood draw. Participants with a PID and their relatives will be called once a year for 10 years. They will talk about how they are feeling and if they have developed any new symptoms or illnesses. ...
CONDITIONS
Official Title
The Mechanistic Biology of Primary Immunodeficiency Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients aged 0-90 years with a clinical diagnosis of a primary immunodeficiency disorder confirmed by lab or clinical findings on two or more occasions
- Infants identified at birth with positive newborn screening for SCID and confirmed T-cell lymphocytopenia
- Biological relatives aged 0-90 years of PID patients who do not have PID themselves
- Healthy volunteers aged 18-75 years who are unrelated to study subjects, weigh over 110 pounds, and have no history of heart, lung, kidney disease, bleeding disorders, viral hepatitis B or C, and have a negative HIV test
- Willingness to undergo genetic testing and allow biospecimens to be used for research and stored for future studies
- Women who are pregnant, lactating, or of childbearing potential may participate with reduced blood sample volume and no skin biopsies for safety
You will not qualify if you...
- Presence of secondary immunodeficiency such as HIV infection or immunodeficiency due to chronic immunosuppressive or chemotherapy treatments
- Any condition that the investigator believes makes participation unsafe or inappropriate
AI-Screening
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Trial Site Locations
Total: 2 locations
1
Children's National Health System (CNHS)
Washington D.C., District of Columbia, United States, 20010
Actively Recruiting
2
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
L
Luigi D Notarangelo, 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
3
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