Information de reference pour ce titreAccession Number: | 00000620-201312850-00004.
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Author: | Massaad, Michel J. 1; Ramesh, Narayanaswamy 1; Geha, Raif S. 1
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Institution: | (1) Division of Immunology, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts,
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Title: | |
Source: | Annals of the New York Academy of Sciences. 1285(1):26-43, May 2013.
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Abstract: | : Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and an increased incidence of autoimmunity and malignancies. The disease is caused by mutations in the WAS gene expressed exclusively in hematopoietic cells. WAS protein (WASp) is a multidomain protein that exists in complex with several partners that play important roles in its function. WASp belongs to a family of proteins that relay signals from the surface of the cell to the actin cytoskeleton. Mutations in the WAS gene have various effects on the level of WASp, which, in turn, correlates with the severity of the disease. In addition to WAS, mutations in the WAS gene can result in the mild variant X-linked thrombocytopenia, or in X-linked neutropenia, characterized by neutropenia with myelodysplasia. The absence of functional WASp leads to a severe clinical phenotype that can result in death if not diagnosed and treated early in life. The treatment of choice with the best outcome is hematopoietic stem cell transplantation, preferably from a matched related donor.
Copyright 2013 by the New York Academy of Sciences. All rights reserved.
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Author Keywords: | Wiskott-Aldrich syndrome; primary immunodeficiency; hematopoietic cells; F-actin; immune cell function; hematopoietic stem cell transplantation; gene therapy.
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Language: | English.
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Document Type: | Original Articles.
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Journal Subset: | Science.
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ISSN: | 0077-8923
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NLM Journal Code: | 5nm, 7506858
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DOI Number: | https://dx.doi.org/10.1111/nyas....- ouverture dans une nouvelle fenêtre
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