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Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders



Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

For Condition: X-linked hyper IgM syndrome,X-linked agammaglobulinemia,Wiskott-Aldrich Syndrome,Leukocyte Adhesion Deficiency Syndrome
Status: No longer recruiting
Sponsor(s): National Institute of Child Health and Human Development (NICHD) , University of Washington
Synopsis: 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.
Details: 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.
Eligibility:
Study Type:  Observational, Screening
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: PROTOCOL ENTRY CRITERIA: Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome
Total Enrollment: 

Location and Contact Information:

Overall Study Official:
HansOchs,  Study Chair,  University of Washington

University of Washington School of Medicine
Seattle,  Washington,  98195
United States
 


Additional Information:
Study ID Numbers:  199/11900;  UW-533
Study Start Date: July 1995
Record last reviewed: October 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00004341

Other Leukocyte Adhesion Deficiency Syndrome Studies:
1. Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies

2. Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

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