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Genetic Basis of Immunodeficiency

The Determination of Genetic Basis Of Immunodeficiency

Who can join

6 Months – 99 Years · All sexes

* 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

About the study

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.

Sponsor: National Heart, Lung, and Blood Institute (NHLBI) · Participants: 100 · Started: Apr 5, 2004

Contact the study team

• Warren J Leonard, M.D. · Phone: (301) 496-0098

Official record on ClinicalTrials.gov — NCT00055172

Locations in the U.S.

Conditions

• Severe Combined Immunodeficiency

From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.