نتایج جستجو برای: aldrich syndrome
تعداد نتایج: 623385 فیلتر نتایج به سال:
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...
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...
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...
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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