Genetic Basis of Immunodeficiency
| Status: | Recruiting |
|---|---|
| Conditions: | Infectious Disease, HIV / AIDS |
| Therapuetic Areas: | Immunology / Infectious Diseases |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 2/7/2019 |
| Start Date: | February 19, 2003 |
| Contact: | Warren J Leonard, M.D. |
| Email: | wl2w@nih.gov |
| Phone: | (301) 496-0098 |
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.
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 or gene regulation in response to these cytokines,
although other causes of inherited immunodeficiency are also encompassed.
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.
- 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.
We found this trial at
2
sites
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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