Bethesda, Maryland 20892

  • Severe Combined Immunodeficiency


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.

Study summary:

The goal of this project is to identify the genetic basis of new forms of inherited immunodeficiency. The particular focus relates to cytokines such as IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21 that share the common cytokine receptor (Gamma) chain, (Gamma c), and to molecules that are important for signaling or gene regulation in response to these cytokines, although other causes of inherited immunodeficiency are also encompassed.


- 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



Primary Contact:

Principal Investigator
Warren J Leonard, M.D.
National Heart, Lung, and Blood Institute (NHLBI)

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

Backup Contact:


Location Contact:

Bethesda, Maryland 20892
United States

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Phone: 800-411-1222

Site Status: Recruiting

Data Source:

Date Processed: November 27, 2022

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