Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

The recruitment status of this study is unknown because the information has not been verified recently.
Verified October 2003 by Office of Rare Diseases (ORD).
Recruitment status was  Active, not recruiting
University of Washington
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: October 2003

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.

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

Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Study Start Date: July 1995
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.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No


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

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Please refer to this study by its identifier: NCT00004341

United States, Washington
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
  More Information

Publications: Identifier: NCT00004341     History of Changes
Other Study ID Numbers: 199/11900, UW-533
Study First Received: October 18, 1999
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
Wiskott-Aldrich syndrome
X-linked agammaglobulinemia
X-linked hyper IgM syndrome
genetic diseases and dysmorphic syndromes
immunologic disorders and infectious disorders
leukocyte adhesion deficiency syndrome
primary immunodeficiency disease
rare disease

Additional relevant MeSH terms:
Genetic Diseases, X-Linked
Hyper-IgM Immunodeficiency Syndrome
Hyper-IgM Immunodeficiency Syndrome, Type 1
Leukocyte-Adhesion Deficiency Syndrome
Wiskott-Aldrich Syndrome
Blood Coagulation Disorders
Blood Coagulation Disorders, Inherited
Blood Protein Disorders
Genetic Diseases, Inborn
Hematologic Diseases
Hemorrhagic Disorders
Immune System Diseases
Immunologic Deficiency Syndromes
Leukocyte Disorders
Lymphatic Diseases
Lymphoproliferative Disorders
Pathologic Processes processed this record on November 24, 2015