NCT Number: NCT00055172
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.
Interested in participating?
Request Info6 month–99 year
All sexes
Observational
Bethesda, Maryland, 20892, United States
Location status: Recruiting
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
CONTACT
800-411-1222 ext. TTY dial 711
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.
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
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
Exclusion criteria
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.
Contact information is provided by the study sponsor or research team.
National Heart, Lung, and Blood Institute (NHLBI)
Nih
The Determination of Genetic Basis Of Immunodeficiency
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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