Genetic Basis of Immunodeficiency

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Brief Title

Genetic Basis of Immunodeficiency

Official Title

The Determination of Genetic Basis Of Immunodeficiency

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.

Detailed Description

      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.

Study Type


Primary Outcome

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


Severe Combined Immunodeficiency

Study Arms / Comparison Groups

 Non-sibling relative
Description:  18 years of age or older


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

April 5, 2004

Eligibility 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


          -  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




6 Months - 100 Years

Accepts Healthy Volunteers



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

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Responsible Party


Study Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Study Sponsor

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

Verification Date

April 27, 2021