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Recruiting
NCT00055172
Genetic Basis of Immunodeficiency
Conditions: Severe Combined Immunodeficiency
Sex: All
Ages: 6 Months – 99 Years
Healthy volunteers: No
Enrollment: 100
Sponsor: National Heart, Lung, and Blood Institute (NHLBI)
Location: National Institutes of Health Clinical Center Bethesda Maryland
Summary
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.
Eligibility Criteria
* 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 with a known diagnosis
* Patients with a particular immunological phenotype that is not of interest to the research conducted under this study.
* Pregnancy or lactation
* Adults with current decisional impairment
Source: ClinicalTrials.gov (NCT00055172). StuddyBuddy aggregates publicly available trial information.