Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- X-Linked Agammaglobulinemia
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Locations
- 1
- Last Updated
- 20 years ago
Overview
Brief Summary
OBJECTIVES: I. Identify the molecular defects responsible for primary immunodeficiency disorders.
II. Explore the mutations within each syndrome to better understand the genetics of these disorders.
III. Study the function of the Wiskott-Aldrich syndrome proteins (WASP). IV. Design methods to identify carriers and for prenatal diagnosis. V. Explore new avenues for therapy.
Detailed Description
PROTOCOL OUTLINE: Patients are studied systematically to determine the extent of their immune deficiency and to confirm a specific diagnosis. Patients with a known immunodeficiency syndrome are studied in detail to identify the gene mutation, to assess the effect of the mutation on the gene product, and to establish cell lines for further in vitro assessment of the genetic defect. The function of Wiskott-Aldrich syndrome proteins (WASP) in hematopoietic cells is studied. Family members of patients with X-linked disorders are studied to identify carrier females.
Investigators
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Not specified