Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
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.
X-Linked Hyper IgM Syndrome
Leukocyte Adhesion Deficiency Syndrome
|Study Design:||Primary Purpose: Screening|
|Study Start Date:||July 1995|
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00004341
|United States, Washington|
|University of Washington School of Medicine|
|Seattle, Washington, United States, 98195|
|Study Chair:||Hans D. Ochs||University of Washington|