Last updated on July 2019

The Mechanistic Biology of Primary Immunodeficiency Disorders

Brief description of study


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.


To learn more about PIDs, including their genetic causes.


People ages 0 75 with a PID or their healthy biological relatives the same ages

Healthy volunteers ages 18 75


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.


Detailed Study Description

This is a natural history study designed to investigate forms of primary immunodeficiency disorders (PIDs), and to better define both new and previously described forms of PID, including severe combined immunodeficiency (SCID), combined immunodeficiency, natural killer (NK) cell deficiency, and other disorders. Patients with clinical and/or laboratory evidence of PID will be recruited at Children s National Health System (CNHS) and the National Institute of Allergy and Infectious Diseases (NIAID). Infants identified at birth with a positive newborn screening for SCID and confirmed to have T-cell lymphocytopenia will also be recruited at CNHS. Subjects with a known or unknown PID and infants with T-cell lymphocytopenia will provide one or more blood donations during the course of the study to enable immunologic and genetic investigations of immune pathways contributing to PIDs. These subjects will also be followed clinically to longitudinally assess the natural history of novel and known PIDs. Subjects will be followed over time with regard to their immunologic phenotype, clinical disease (including incidence of infections, autoimmune phenomena, allergic disease, or malignancies), and response to both preventative and definitive therapies. Biological relatives who do not have PID and healthy adult volunteers will also be eligible to serve as controls for this study.

Clinical Study Identifier: NCT03394053

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