Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

Brief Title

Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders


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.
    


Study Type

Observational




Condition

X-Linked Agammaglobulinemia



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information




Start Date

July 1995



Eligibility Criteria

        PROTOCOL ENTRY CRITERIA:

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

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Hans D. Ochs, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT00004341

Organization ID

199/11900

Secondary IDs

UW-533


Study Sponsor

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

Collaborators

 University of Washington

Study Sponsor

Hans D. Ochs, Study Chair, University of Washington


Verification Date

October 2003