OBJECTIVES: I. Identify the molecular defects responsible for primary immunodeficiency
II. Explore the mutations within each syndrome to better understand the genetics of these
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.
PROTOCOL ENTRY CRITERIA:
Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome
Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome