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.

  • Study Type: Observational
  • Study Design: Primary Purpose: Screening

Detailed Clinical Trial 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.

Criteria for Participation in this Clinical Trial


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

Gender Eligibility for this Clinical Trial: Both

Minimum Age for this Clinical Trial: N/A

Maximum Age for this Clinical Trial: N/A

Are Healthy Volunteers Accepted for this Clinical Trial: No

Clinical Trial Investigator Information

  • Lead Sponsor
    • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  • Collaborator
    • University of Washington
  • Overall Official(s)
    • Hans D. Ochs, Study Chair, University of Washington


Miki H, Nonoyama S, Zhu Q, Aruffo A, Ochs HD, Takenawa T. Tyrosine kinase signaling regulates Wiskott-Aldrich syndrome protein function, which is essential for megakaryocyte differentiation. Cell Growth Differ. 1997 Feb;8(2):195-202.

Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood. 1997 Oct 1;90(7):2680-9.


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