Genetic Basis of Immunodeficiency

This study is currently recruiting participants.
Verified June 2012 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00055172
First received: February 20, 2003
Last updated: December 19, 2012
Last verified: June 2012

February 20, 2003
December 19, 2012
February 2003
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Complete list of historical versions of study NCT00055172 on ClinicalTrials.gov Archive Site
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Genetic Basis of Immunodeficiency
The Determination of Genetic Basis Of 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.

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 in response to these cytokines.

Observational
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Severe Combined Immunodeficiency
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
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  • INCLUSION CRITERIA:

Patients to be included are those with diminished numbers of T cells and/or NK cells or those who have normal T cell and NK cell numbers but diminished T cell, B cell, or NK cell function. 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 to be excluded are those with a known diagnosis or those who are related to an individual with an immunodeficiency of known cause. 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

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Contact: Warren J Leonard, M.D. (301) 496-0098 wl2w@nih.gov
United States,   Chile
 
NCT00055172
030105, 03-H-0105
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National Heart, Lung, and Blood Institute (NHLBI)
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Principal Investigator: Warren J Leonard, M.D. National Heart, Lung, and Blood Institute (NHLBI)
National Institutes of Health Clinical Center (CC)
June 2012

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP