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

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.

Visit ClinicalTrials.gov for details.

Contact Information

Office/Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Phone: 800-411-1222
TTY: TTY8664111010
Email: prpl@cc.nih.gov
 

Participating in Research

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