Genetic Basis of Immunodeficiency
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ClinicalTrials.gov Identifier: NCT00055172 |
Recruitment Status
:
Recruiting
First Posted
: February 20, 2003
Last Update Posted
: March 29, 2018
|
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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 : | Observational |
Estimated Enrollment : | 99999999 participants |
Official Title: | The Determination of Genetic Basis Of Immunodeficiency |
Study Start Date : | February 19, 2003 |


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

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 Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 prpl@cc.nih.gov | |
Chile | |
Universidad de Immunologia | Recruiting |
Santiago, Chile |
Principal Investigator: | Warren J Leonard, M.D. | National Heart, Lung, and Blood Institute (NHLBI) |
Additional Information:
Publications:
Responsible Party: | National Heart, Lung, and Blood Institute (NHLBI) |
ClinicalTrials.gov Identifier: | NCT00055172 History of Changes |
Other Study ID Numbers: |
030105 03-H-0105 |
First Posted: | February 20, 2003 Key Record Dates |
Last Update Posted: | March 29, 2018 |
Last Verified: | November 22, 2017 |
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):
Cytokines Mutation DNA Phenotype |
T Cell Immunodeficiency Inherited Immunodeficiency |
Additional relevant MeSH terms:
Immunologic Deficiency Syndromes Severe Combined Immunodeficiency Immune System Diseases |
Infant, Newborn, Diseases DNA Repair-Deficiency Disorders Metabolic Diseases |