Genetic Basis of Immunodeficiency

What this study involves

The registry says this study is recruiting. Individual locations may have different availability.

Study type

Observational

Phase

Not applicable / not listed

Age range

6 months - 99 years

Sex eligible

All sexes

Healthy volunteers

Not accepted

Participants

100 Estimated

These are starting points, not an eligibility decision. The research team must review the full requirements.

About the research

This study will examine the role of hereditary factors in different forms of severe combined immunodeficiency (SCID).

Patients with immunodeficiencies may be eligible for this study. Candidates include:

• Patients with diminished numbers of T cells or NK cells or both, or
• Patients with normal T cell and NK cell numbers but diminished T cell, B cell, or NK cell function.

Relatives of patients will also be studied.

Participants will have blood samples collected for genetic analysis in studies related to SCID at the National Institutes of Health and other institutions.

Who may be able to participate?

The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.

• INCLUSION CRITERIA:

Index cases to be included are those with diminished numbers of T cells and/or NK cells and/or B cells or other immune cells or those who have normal numbers of T cell, B cells, NK cells and other immune cells but diminished function of one or more immune cells. Relatives of affected individuals may also be studied

• 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 CRITERIA:

• 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

Study population

Primary clinical

Treatment, groups and participation

The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.

Assignment

Not reported

Masking

Not reported

What researchers are measuring

Outcome measures describe what is being studied. They are not proof that a treatment works.

Primary measures

Research locations (1)

The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.

1 locations

Study team and timeline

Lead sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Study start

Apr 5, 2004 Actual

Primary completion

Not reported

Study completion

Not reported

First posted

Feb 20, 2003 Estimated

Last updated

Nov 10, 2026 Actual

Official study contacts