Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
This trial is active, not recruiting.
|Conditions||x-linked agammaglobulinemia, x-linked hyper igm syndrome, wiskott-aldrich syndrome, leukocyte adhesion deficiency syndrome|
|Sponsor||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|
|Collaborator||University of Washington|
|Start date||July 1995|
|Trial identifier||NCT00004341, 199/11900, UW-533|
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.
Male or female participants of any age.
PROTOCOL ENTRY CRITERIA: Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome
|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.|
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