Recruiting

Genetic Basis

Sponsor:

National Heart, Lung, and Blood Institute (NHLBI)

Code:

NCT00055172

Conditions

Severe Combined Immunodeficiency

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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.

Conditions

Severe Combined Immunodeficiency

Study ID

NCT00055172

Start date

Apr 5, 2004

Status verified date

Dec 4, 2025

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • 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 Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Arms

Non-sibling relative

18 years of age or older

Patients (index cases)

Patients (index cases), 6 months of age or older

Siblings

Siblings, 6 months of age or older

Primary outcome measure

  • To identify forms of inherited immunodeficiency resulting from mutation of yc dependent cytokines, components of their receptors, or signaling molecules in their pathways [ Time Frame: ongoing ]

Central Contacts and Locations

Central contacts

Warren J Leonard, M.D.

(301) 496-0098wl2w@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Last update posted

Sep 1, 2026

Last verified

Dec 4, 2025

Keywords

  • Cytokines
  • Inherited Immunodeficiency
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Heart, Lung, and Blood Institute (NHLBI) on 2026-09-01.