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Genetic Basis of Immunodeficiency Study

This observational study aims to understand the genetic causes of severe combined immunodeficiency (SCID), a condition where the immune system doesn't work properly. Researchers are looking for changes (mutations) in genes related to immune system signaling. You might be able to join if you have a weakened immune system, specifically if you have low numbers of certain immune cells (T cells or NK cells) or if these cells don't work well. Relatives of patients can also participate. The goal is to identify new genetic forms of inherited immunodeficiency. The study is currently unclear on its recruitment status.

Study design
This is an observational study with a planned enrollment of 100 participants. It is not testing a specific treatment.
What's involved
Participants will have blood samples collected for genetic analysis.
Compensation
Not stated in the trial record.
Follow-up
The primary goal of identifying genetic forms of immunodeficiency is measured on an ongoing basis.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00055172

Genetic Basis of Immunodeficiency

Recruiting
Not specifiedAges 6–99Observational
National Heart, Lung, and Blood Institute (NHLBI)
~100 participants
Updated 2026-09-01 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
To identify forms of inherited immunodeficiency resulting from mutation of yc dependent cytokines, components of their receptors, or signaling molecules in their pathways
Measured over ongoing

Conditions

Severe Combined Immunodeficiency

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NCT00055172

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • National Institutes of Health Clinical Center

    Bethesda, Marylandstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Warren J Leonard, M.D. · PRINCIPAL_INVESTIGATOR · National Heart, Lung, and Blood Institute (NHLBI)

Who to contact

Warren J Leonard, M.D.
[email protected]
(301) 496-0098
Email the study team

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Eligibility criteria

Inclusion

Patients (index cases): 6 months of age and older
Siblings: 6 months of age and older
Non-sibling relatives (biological parent, aunt, uncle or grandparent): 18 years or older

Exclusion

Patients with a known diagnosis
Patients with a particular immunological phenotype that is not of interest to the research conducted under this study.
Pregnancy or lactation
Adults with current decisional impairment

What this trial measures

  • To identify forms of inherited immunodeficiency resulting from mutation of yc dependent cytokines, components of their receptors, or signaling molecules in their pathwaysongoing

    In an effort to determine the cause of the immunodeficiency, we will perform studies that may include but not be limited to evaluating the levels of expression of protein and/or mRNA, obtaining DNA sequence data, performing epigenetic studies, and evaluating biological function using cellular, biochemical, or other molecular studies.