Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (NIH)
Overall Status
Unknown status ID
University of Washington (Other)

Study Details

Study Description

Brief Summary

OBJECTIVES: I. Identify the molecular defects responsible for primary immunodeficiency disorders.

  1. Explore the mutations within each syndrome to better understand the genetics of these disorders.

  2. 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.

Study Design

Study Type:
Study Start Date :
Jul 1, 1995

Outcome Measures

Primary Outcome Measures

    Eligibility Criteria


    Ages Eligible for Study:
    0 Years and Older
    Sexes Eligible for Study:
    Accepts Healthy Volunteers:

    Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome

    Contacts and Locations


    Site City State Country Postal Code
    1 University of Washington School of Medicine Seattle Washington United States 98195

    Sponsors and Collaborators

    • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
    • University of Washington


    • Study Chair: Hans D. Ochs, University of Washington

    Study Documents (Full-Text)

    None provided.

    More Information


    Responsible Party:
    , , Identifier:
    Other Study ID Numbers:
    • 199/11900
    • UW-533
    First Posted:
    Oct 19, 1999
    Last Update Posted:
    Jun 24, 2005
    Last Verified:
    Oct 1, 2003

    Study Results

    No Results Posted as of Jun 24, 2005