Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

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

Overview

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.

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

Conditions

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

Eligibility

Sex: ALLMin age: 0 Years

Medical Language ↔ Plain English

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

Locations (1)

University of Washington School of Medicine

Seattle, Washington, United States

Data from ClinicalTrials.gov

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