Sample Collection for Systems Evaluation of Patients With Unknown or Incompletely Characterized Immune Defects
Completed
Conditions studied: Immunodeficiency
In brief
Background: The immune system defends the body against disease. It has many different parts spread out in the body, including in the blood and skin. To learn more about it, researchers want to study samples from people with healthy immune systems and people with conditions that affect how the immune system works. Objective: To learn about how the different parts of the immune system come together to make a whole. Eligibility: People age 2 and older who have a condition that affects the immune system or have a family member with such a condition. Design: Participants will be screened with medical and medicine review. Other lab tests may also be reviewed. Some participants will take a pregnancy test. Participants will give blood samples. They may also give saliva, stool, and urine samples. A sterile cotton swab may be rubbed over their skin or inside the cheek or nose to collect cells. If participants have samples collected as part of their regular medical care, their doctor may be asked to send parts of the samples that otherwise would be thrown away. These samples may be from biopsies, endoscopies, or other procedures. Some participants may have optional skin punch biopsies. For this, their skin is numbed. Then a tool removes 1 or 2 small pieces of skin from the forearm or thigh. Participants medical records will be checked to see if they have any changes in their health over time. If they have a study visit, they may talk about their medical history and have a physical exam. Participation lasts 5 years....
Key facts
- Study ID
- NCT04408950
- Run by
- National Institute of Allergy and Infectious Diseases (NIAID)
- People needed
- 19
- Starts
- 2020-11-12
- Expected to finish
- 2025-01-27
- Last updated by the study team
- 2026-07-09
Who can join
Age: 2 and older, up to 120. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Individuals meeting any of the following criteria will be excluded from study participation:
- History of secondary causes of immunodeficiency or dysregulation (e.g., HIV infection, immunodeficiency from chronic use of immunosuppressive or chemotherapeutic agents), at the discretion of the investigator.
- Pregnancy.
- Any condition that, in the opinion of the investigator, contraindicates participation in this study.
Where it is running
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
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