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| ID | Type | Description | Link |
|---|---|---|---|
| UW-533 |
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| Name | Class |
|---|---|
| University of Washington | OTHER |
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.
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PROTOCOL ENTRY CRITERIA:
Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome
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| Name | Affiliation | Role |
|---|---|---|
| Hans D. Ochs | University of Washington | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Washington School of Medicine | Seattle | Washington | 98195 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 9040941 | Background | Miki H, Nonoyama S, Zhu Q, Aruffo A, Ochs HD, Takenawa T. Tyrosine kinase signaling regulates Wiskott-Aldrich syndrome protein function, which is essential for megakaryocyte differentiation. Cell Growth Differ. 1997 Feb;8(2):195-202. | |
| 9326235 | Background | Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood. 1997 Oct 1;90(7):2680-9. |
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| ID | Term |
|---|---|
| C537409 | Bruton type agammaglobulinemia |
| D053307 | Hyper-IgM Immunodeficiency Syndrome, Type 1 |
| D014923 | Wiskott-Aldrich Syndrome |
| D018370 | Leukocyte-Adhesion Deficiency Syndrome |
| D030342 | Genetic Diseases, Inborn |
| D007154 | Immune System Diseases |
| D003141 | Communicable Diseases |
| D000081207 | Primary Immunodeficiency Diseases |
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D053306 | Hyper-IgM Immunodeficiency Syndrome |
| D004406 | Dysgammaglobulinemia |
| D001796 | Blood Protein Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007153 | Immunologic Deficiency Syndromes |
| D025861 | Blood Coagulation Disorders, Inherited |
| D001778 | Blood Coagulation Disorders |
| D008231 | Lymphopenia |
| D007970 | Leukopenia |
| D000095542 | Cytopenia |
| D006474 | Hemorrhagic Disorders |
| D007960 | Leukocyte Disorders |
| D007239 | Infections |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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