نتایج جستجو برای: wiskott
تعداد نتایج: 1772 فیلتر نتایج به سال:
This article discusses the role of electron microscopy in diagnosis and study morphological changes that cause platelet structural abnormalities a variety congenital diseases. Morphological can be divided into cytoskeleton, alpha dense granules, membrane abnormalities. Our paper describes ultrastructural defects Wiskott–Aldrich syndrome, MYH9-associated syndromes, gray Hermansky–Pudlak Paris–Tr...
© 2008, 2009, 2016 Laurenz Wiskott (homepage https://www.ini.rub.de/PEOPLE/wiskott/). This work (except for all figures from other sources, if present) is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/. Figures from other sources have their own copyright, which is generall...
Wiskott-Aldrich syndrome is a severe X-linked recessive immune deficiency disorder. A scoring system of Wiskott-Aldrich syndrome severity (0.5-5) distinguishes two phenotypes: X-linked thrombocytopenia and classic Wiskott-Aldrich syndrome. Hematopoietic cell transplantation is curative for Wiskott-Aldrich syndrome; however, the use of unrelated umbilical cord blood transplantation has seldom be...
© 2008, 2009, 2016 Laurenz Wiskott (homepage https://www.ini.rub.de/PEOPLE/wiskott/). This work (except for all figures from other sources, if present) is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/. Figures from other sources have their own copyright, which is generall...
BACKGROUND Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene. Microthrombocytopenia has been regarded as the key criteria in diagnosing this rare condition. However, in this case report, we describe a case of Wiskott-Aldrich syndrome with normal platelet size. CASE PRESENTATI...
1. Derry JMJ, Ochs HD, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78:635, 1994 2. Schwarz K, Nonoyama S, Peitsch MC, de Saint Basile G, Espanol T, Fasth A, Fischer A, Freitag K, Friedrich W, Fugmann S, Hossle H-P, Jones A, Kinnon C, Meindl A, Notarangelo LD, Wechsler A, Weiss M, Ochs HD: WASPbase: A database of WASand XLT-causing mutations. Immunol Today 17:4...
1. Derry JMJ, Ochs HD, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78:635, 1994 2. Schwarz K, Nonoyama S, Peitsch MC, de Saint Basile G, Espanol T, Fasth A, Fischer A, Freitag K, Friedrich W, Fugmann S, Hossle H-P, Jones A, Kinnon C, Meindl A, Notarangelo LD, Wechsler A, Weiss M, Ochs HD: WASPbase: A database of WASand XLT-causing mutations. Immunol Today 17:4...
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