Leukocyte Adhesion Deficiency Syndrome, Wiskott-Aldrich Syndrome, X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome
Conditions
Keywords
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
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.
Interventions
None listed
Sponsors
University of Washington
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Eligibility
Sex/Gender
ALL
Age
0 Years to No maximum
Healthy volunteers
No
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
Countries
United States
Outcome results
None listed