نتایج جستجو برای: wiskott

تعداد نتایج: 1772  

Journal: :Voprosy gematologii/onkologii i immunopatologii v pediatrii 2022

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...

2017
Laurenz Wiskott

© 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...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2012

2017
Zhanna Shekhovtsova Carmem Bonfim Annalisa Ruggeri Samantha Nichele Kristin Page Amal AlSeraihy Francisco Barriga José Sánchez de Toledo Codina Paul Veys Jaap Jan Boelens Karin Mellgren Henrique Bittencourt Tracey O’Brien Peter J. Shaw Alicja Chybicka Fernanda Volt Federica Giannotti Eliane Gluckman Joanne Kurtzberg Andrew R. Gennery Vanderson Rocha

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...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2013

2017
Laurenz Wiskott

© 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...

2016
Mohd Farid Baharin Jasbir Singh Dhaliwal Smrdhi V. V. Sarachandran Siti Zaharah Idris Seoh Leng Yeoh

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...

Journal: :Journal of Clinical Investigation 1972

Journal: :Blood 1998
A Beghini L Larizza R Cairoli E Morra

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...

1998
Tadashi Ariga Masafumi Yamada Yukio Sakiyama

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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