Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Study Classification

OBSERVATIONAL

Study Start Date

1995-07-31

Brief Summary

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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

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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.

Conditions

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X-Linked Agammaglobulinemia X-Linked Hyper IgM Syndrome Wiskott-Aldrich Syndrome Leukocyte Adhesion Deficiency Syndrome

Eligibility Criteria

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Inclusion Criteria

PROTOCOL ENTRY CRITERIA:

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

Minimum Eligible Age

0 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Principal Investigators

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Hans D. Ochs

Role: STUDY_CHAIR

University of Washington

Locations

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University of Washington School of Medicine

Seattle, Washington, United States

Site Status

Countries

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United States

References

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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.

Reference Type BACKGROUND

PMID: 9040941 (View on PubMed)

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.

Reference Type BACKGROUND

PMID: 9326235 (View on PubMed)

Other Identifiers

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UW-533

Identifier Type: -

Identifier Source: secondary_id

199/11900