Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies

Recruiting

Brief Summary: 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.

Detailed Description: Study Design:

This is a prospective sample collection protocol to receive send-in biological samples. Participants will not be seen at the NIH for study visits. Under this protocol, genetic and molecular tests will be performed on samples to improve understanding of PIDs. Findings relevant to participants health and medical care will be returned to them and their referring healthcare providers.

Primary Objective:

To achieve genetic and immunologic characterization of known or suspected disorders of the immune system.

Primary Endpoints:

1. Identification of genetic variants that are associated with PID.

2. Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocols.

This is a sample collection protocol to receive send-in samples (blood, tissue, and other bodily fluids) from patients with known or suspected primary immunodeficiency disorder (PID) and their relatives. Under this protocol, genetic and molecular tests will be performed on samples to improve understanding of PIDs and immune system abnormalities. Findings relevant to participants health and medical care will be returned to them and their referring healthcare providers.

Recruitment & Eligibility

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Primary Outcome Measures

Name	Time	Method
Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocols	Duration of participant enrollment	Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocols. To achieve genetic and immunologic characterization of known or suspected disorders of the immune system.
Identification of genetic variants that are associated with PID.	Duration of participant enrollment	To achieve genetic and immunologic characterization of known or suspected disorders of the immune system.

Secondary Outcome Measures

Name	Time	Method
Identification of molecular and functional abnormalities associated with known or novel forms of PID (repository study).	Duration of participant enrollment	Identification of molecular and functional abnormalities associated with known or novel forms of PID (repository study).

Locations (3): National Institutes of Health Clinical Center
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Bethesda, Maryland, United States
Pavia Hospital (PH)
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Pavia, Italy
Marmara University Hospital, Istanbul Jeffrey Modell Diagnostic and Research Cen
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Istanbul, Turkey