Genetic Basis of Immunodeficiency
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Purpose
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 |
|---|
|
Severe Combined Immunodeficiency |
| Study Type: | Observational |
| Official Title: | The Determination of Genetic Basis Of Immunodeficiency |
| Estimated Enrollment: | 99999999 |
| Study Start Date: | February 2003 |
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.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
- 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
Contacts and Locations| 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 | |
| Chile | |
| Universidad de Immunologia | Recruiting |
| Santiago, Chile | |
| Principal Investigator: | Warren J Leonard, M.D. | National Heart, Lung, and Blood Institute (NHLBI) |
More Information
Additional Information:
Publications:
| ClinicalTrials.gov Identifier: | NCT00055172 History of Changes |
| Other Study ID Numbers: | 030105, 03-H-0105 |
| Study First Received: | February 20, 2003 |
| Last Updated: | December 19, 2012 |
| Health Authority: | United States: Federal Government |
Keywords provided by National Institutes of Health Clinical Center (CC):
|
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 |
ClinicalTrials.gov processed this record on May 19, 2013