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Genetic Basis of Immunodeficiency

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ClinicalTrials.gov Identifier: NCT00055172
Recruitment Status : Recruiting
First Posted : February 20, 2003
Last Update Posted : November 27, 2017
Information provided by (Responsible Party):

Study Description
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.

Condition or disease
Severe Combined Immunodeficiency

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 Design

Study Type : Observational
Estimated Enrollment : 99999999 participants
Official Title: The Determination of Genetic Basis Of Immunodeficiency
Study Start Date : February 19, 2003

Groups and Cohorts

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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


Patients to be excluded are those with a known diagnosis. Other patients may be excluded based on the particular immunological phenotype or the inability of the laboratory to handle additional cases at a given time.

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00055172

Contact: Warren J Leonard, M.D. (301) 496-0098 wl2w@nih.gov

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Universidad de Immunologia Recruiting
Santiago, Chile
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Warren J Leonard, M.D. National Heart, Lung, and Blood Institute (NHLBI)
More Information

Additional Information:
Responsible Party: National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier: NCT00055172     History of Changes
Other Study ID Numbers: 030105
First Posted: February 20, 2003    Key Record Dates
Last Update Posted: November 27, 2017
Last Verified: November 22, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):
T Cell
Inherited Immunodeficiency

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Severe Combined Immunodeficiency
Immune System Diseases
Infant, Newborn, Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases