نتایج جستجو برای: aldrich syndrome

تعداد نتایج: 623385  

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...

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...

خانیان, علی عباس, سلیمانی راد , حسین, غفاری , جواد, کرمی , حسین,

Wiscott-Aldrich syndrome (WAS) is an x-linked immune-deficiency disorder associated with eczema, recurrent infections, and increased frequency of autoimmune diseases, malignancy and thrombocytopenia with small size platelet. Our case is an 11 year old from a non- related parent, who was admitted with abdominal pain (hematoma), lower extremities bleeding (ecchymosed) and vomiting. Also, he had...

Journal: :JNCI Journal of the National Cancer Institute 1996

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...

Journal: :JNCI Journal of the National Cancer Institute 1996

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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