Actively Recruiting
Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies
Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-04-14
3000
Participants Needed
3
Research Sites
975 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: The immune system helps the body fight infections. Primary immunodeficiency disorders (PIDs) are diseases that make it easier for people to get sick. Many PIDs are inherited. This means parents can pass them on to their children. Knowing what causes a person s PID is important to decide what treatment to give them. Objective: To test samples from people with a PID or people related to someone with a PID to find out what causes PIDs. Eligibility: People ages 99 or younger who have a PID or have a relative with a PID Design: Participants will be screened with a medical history over the phone. They may need to give permission for researchers talk to their doctors about their health. Their relatives may be contacted to see if they want to join the study. Participants will give samples. These could be: Blood: Participants blood will be taken from a vein in an arm, or with a prick on the finger or heel for children. Saliva, urine, or stool: Participants will provide each sample in a special cup. Nose or cheek swab: Participants will rub the skin inside their nose or cheek using a cotton swab. Cord blood: If participants have a baby during the study, blood will be collected from the baby s umbilical cord after it is born. Samples from medical procedures: If, during the study, the participants have a medical procedure that collects samples, the samples may be used for the study.
CONDITIONS
Official Title
Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 0 to 99 years
- Clinical diagnosis or suspicion of a primary immunodeficiency disorder (PID) based on laboratory or clinical findings on two or more occasions
- Biological relative of someone with a known or suspected PID, without clinical evidence of PID
- Able to provide informed consent
- Willing to allow genetic testing and biospecimens to be modified into induced pluripotent stem cells
- Willing to allow storage of samples and data for future research
You will not qualify if you...
- History of secondary causes of immunodeficiency such as HIV infection or immunodeficiency from chronic use of immunosuppressive or chemotherapy drugs
- Any condition that in the investigator's opinion contraindicates participation
- Adults unable to provide informed consent
- Participants permanently losing ability to consent during the study will be withdrawn
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 3 locations
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
Pavia Hospital (PH)
Pavia, Italy, 27100
Actively Recruiting
3
Marmara University Hospital, Istanbul Jeffrey Modell Diagnostic and Research Cen
Istanbul, Turkey (Türkiye)
Actively Recruiting
Research Team
P
Pooi M Truong
CONTACT
O
Ottavia M Delmonte, 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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