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Center for Cancer Research - Staff Pages
8) Yamaguchi K, Ariga T, Yamada M, Nelson DL, Kobayashi R, Kobayashi C, Noguchi Y, Ito Y, Katamura K, Nagatoshi Y, Kondo S, Katoh H, Sakiyama Y . Mixed chimera status of 12 patients with Wiskott-Aldrich Syndrome (WAS) after hematopoietic stem cell transplantation: evaluation by flow cytometric analysis of intracellular WAS protein expression.
Definition of Aldrich syndrome - NCI Dictionary of Cancer Terms
An inherited immune disorder that occurs in young boys. It causes eczema (a type of skin inflammation), a decrease in the number of platelets (blood cells that help prevent bleeding), and frequent bacterial infections. People with Aldrich Syndrome are at increased risk of developing leukemia and lymphoma. Also called Wiskott-Aldrich Syndrome.
Wiskott Aldrich syndrome
Wiskott Aldrich Syndrome
Aldrich syndrome
Wiskott Aldrich Syndrome
Definition of Wiskott-Aldrich syndrome - NCI Dictionary of Cancer Terms
An inherited immune disorder that occurs in young boys. It causes eczema (a type of skin inflammation), a decrease in the number of platelets (blood cells that help prevent bleeding), and frequent bacterial infections. People with Wiskott-Aldrich Syndrome are at increased risk of developing leukemia and lymphoma. Also called Aldrich Syndrome.
The Wiskott–Aldrich syndrome
The Wiskott–Aldrich Syndrome
Search of: "Wiskott-Aldrich Syndrome" - List Results - ClinicalTrials.gov
Haploidentical Hematopoietic Stem Cell Transplantation Patients With Wiskott-Aldrich Syndrome
1996.06.03 : Scientists Move Closer to Understanding
Wiskott-Aldrich Syndrome
Now as another step forward in understanding Wiskott-Aldrich Syndrome, researchers atthe
National Cancer Institute (NCI) and Italy's University of Brescia report for the first time the
expression patterns of WASP in various cell types. The scientists show that WASP is detectable in
the cytoplasm, not the nucleus, of blood platelets and immune cells known as lymphocytes and
monocytes. The finding appears in the June issue of The Journal of Clinical Investigation.
Although the study did not explore the function of WASP in these cells, the data support the ideathat
the protein might be involved in a signaling pathway in the cytoplasm of blood platelets and certain
immune cells. If confirmed, WASP could open up an exciting new lead in human cell biology because
it is chemically dissimilar to any known protein and its action appears to be essential to the well being
of blood and immune cells.
OMIM - WISKOTT-ALDRICH SYNDROME; WAS
OMIM - WISKOTT-Aldrich Syndrome; WAS
genome.gov | Candotti Publications
Wada T., Konno A., Schurman S.H., Garabedian E.K., Anderson S.M., Kirby M., Nelson D.L., Candotti F.: Second-site mutation in the Wiskott-Aldrich Syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest, 111:1389-1397. 2003. [ PubMed ]
Energy Citations Database (ECD) - - Document #134115
The Wiskott-Aldrich Syndrome (WAS) is an X-linked immunodeficiency combined with thrombocytopenia in which the molecular defect is still unknown. Initial linkage data placed the WAS gene between TIMP and the marker DXS255 in Xp11.23 to Xp11.22. As no recombination was detected between the disease locus closely linked to DXS255 and the marker loci OATL1, SYP and TFE3, the position of WAS relative to these polymorphic loci could not yet be determined. In this study, further segregation analysis has been performed using additional (CA)n repeats DXS1367, DXS6616 and DXS1126. While DXS1367 and DXS6616 could be mapped adjacent to OATL1, location of DXS1126 between OATL1 and TFE3 is demonstrated. In a WAS pedigree of three generations (4 affected males, 10 obligate female carriers, 7 non-carriers) we observed a recombination event between the disease and the locus TIMP, DXSS1367, and DXS6616 in a patient manifesting WAS and the daughter of his female cousin. The carrier status of the female relative was confirmed or excluded by X inactivation analysis. No recombination was detected by the marker DXS6616 containing the zinc finger genes ZNF21 and ZNF81 as a candidate region of the Wiskott-Aldrich Syndrome and narrows the boundaries to an interval bracketed by DXS6616 and DXS255. In addition, the current results identify the DXS1367 probe as a useful diagnostic marker for indirect genotype analysis of the Wiskott-Aldrich Syndrome.
Energy Citations Database (ECD) - - Document #254378
We report two sisters in a family representing manifestations of Wiskott-Aldrich Syndrome (WAS), an X-linked immunodeficiency disorder. An elder sister had suffered from recurrent infections, small thrombocytopenic petechiae, purpura, and eczema for 7 years. The younger sister had the same manifestations as the elder sister`s for a 2-year period, and died of intracranial bleeding at age 2 years. All the laboratory data of the two patients were compatible with WAS, although they were females. Sialophorin analysis with the selective radioactive labeling method of this protein revealed that in the elder sister a 115-KD band that should be specific for sialophorin was reduced in quantity, and instead an additional 135-KD fragment was present as a main band. Polymerase chain reaction (PCR) analysis of the sialophorin gene and single-strand conformation polymorphism (SSCP) analysis of the PCR product demonstrated that there were no detectable size-change nor electrophoretic mobility change in the DNA from both patients. The results indicated that their sialophorin gene structure might be normal. Studies on the mother-daughter transmission of X chromosome using a pERT84-MaeIII polymorphic marker mapped at Xp21 and HPRT gene polymorphism at Xq26 suggested that each sister had inherited a different X chromosome from the mother. Two explanations are plausible for the occurrence of the WAS in our patients: the WAS in the patients is attributable to an autosomal gene mutation which may regulate the sialophorin gene expression through the WAS gene, or, alternatively, the condition in this family is an autosomal recessive disorder separated etiologically from the X-linked WAS. 17 refs., 6 figs., 1 tab.
NIH VideoCasting Event Summary
Wiskott Aldrich Syndrome protein : forging [a] link between actin and T cell activation [electronic resource] / Kathy Siminovitch.
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Clinical Study: 04-HG-0226, Investigations of Megakaryocytes from Patients with Abnormal Platelet Vesicles
This protocol will include children and adults with a clinical diagnosis of GPS, HPS, isolated gamma-SPD, combined alpha gamma-SPD, Griscelli disease, Chediak Higashi Syndrome, Wiskott Aldrich Syndrome or Thrombocytopenia absent radius Syndrome. Patients whose platelets exhibit abnormal intracellular vesicle morphology will also be eligible.
MTWeb - Target Information
Wiskott-Aldrich Syndrome-like RNA [primary]
SEER Search
visit Aldrich Syndrome (1)
Autoantibodies to CD43 (leukosialin) in HIV-1-infected individuals.
OBJECTIVE: To determine if specific T cell surface molecules are targets for serum anti-T cell antibodies which are found in the majority of HIV-1 infected individuals. METHODS: Sera from HIV-1-infected individuals were adsorbed to different T cell leukemia lines (Jurkat, RPMI 8402, SUP T1) which were previously documented to express a variety of T cell surface antigens. The bound antibodies were eluted and used to identify their antigen targets by immunochemical and molecular biologic assays. RESULTS: 25% of all HIV-1 infected individuals contained serum antibodies that immunoprecipitated a single protein with a Mr of 120 kD from the surface of the T cell leukemia lines. Antibodies to the 120 kD protein were not detected in sera from HIV-1 seronegative subjects. Neuraminidase treatment of the 120 kD protein shifted its electrophoretic mobility to approximately 150 kD, suggesting that the molecule was heavily sialated. The identity of this molecule was confirmed to be CD43 (leukosialin) in that (1) anti-CD43 monoclonal antibodies recognized the protein immunoprecipitated by the human anti-T cell antibody eluates and, (2) the human anti-T cell antibody eluates bound specifically to fibroblasts transfected with a cDNA clone of CD43. No antibodies to other T cell surface antigens, including CD4, were detected by the method used. CONCLUSIONS: This study demonstrates that HIV-1 infected individuals can produce antibodies that target CD43, a thymic (T cell) surface molecule. Because abnormal expression of CD43 has been noted in patients with Wiskott-Aldrich Syndrome, a severe immunodeficiency Syndrome of childhood, and CD43-like molecules have been detected in brain neurons, anti-CD43 autoantibodies may contribute to the pathophysiology of AIDS.
Search of: "Wiskott-Aldrich Syndrome" | United States - List Results - ClinicalTrials.gov
Haploidentical Hematopoietic Stem Cell Transplantation Patients With Wiskott-Aldrich Syndrome
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