Genetic Basis of Immunodeficiency
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|ClinicalTrials.gov Identifier: NCT00055172
Recruitment Status : Recruiting
First Posted : February 20, 2003
Last Update Posted : February 2, 2024
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
|Study Type :
|Estimated Enrollment :
|The Determination of Genetic Basis Of Immunodeficiency
|Actual Study Start Date :
|April 5, 2004
18 years of age or older
Patients (index cases)
Patients (index cases), 6 months of age or older
Siblings, 6 months of age or older
- To identify forms of inherited immunodeficiency resulting from mutation of yc dependent cytokines, components of their receptors, or signaling molecules in their pathways [ Time Frame: ongoing ]In an effort to determine the cause of the immunodeficiency, we will perform studies that may include but not be limited to evaluating the levels of expression of protein and/or mRNA, obtaining DNA sequence data, performing epigenetic studies, and evaluating biological function using cellular, biochemical, or other molecular studies.
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.
|United States, Maryland
|National Institutes of Health Clinical Center
|Bethesda, Maryland, United States, 20892
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY dial 711 email@example.com
|Warren J Leonard, M.D.
|National Heart, Lung, and Blood Institute (NHLBI)