Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

United States Department of Health and Human Services (HHS)

Status: Unknown

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

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00004341

199/11900

UW-533

Details and patient eligibility

About

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.

Full 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.

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

PROTOCOL ENTRY CRITERIA:

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