نتایج جستجو برای: wiskott

تعداد نتایج: 1772  

Journal: :Journal of clinical pathology 1991
G R Standen

Introduction Wiskott-Aldrich syndrome is a rare X-linked disorder which, in its fully expressed form, is recognised by the clinical triad of combined immune deficiency, thrombocytopenia, and eczema.' An increased risk of malignancy has also been reported, with an incidence of about 12% in some series and susceptibility, in particular, to acute leukaemia, lymphoma, and solid tumours of the centr...

Journal: :Blood 2002
Maxim I Lutskiy Yoji Sasahara Dianne M Kenney Fred S Rosen Eileen Remold-O'Donnell

Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by thrombocytopenia, eczema, and various degrees of immune deficiency. Carriers of mutated WASP have nonrandom X chromosome inactivation in their blood cells and are disease-free. We report data on a 14-month-old girl with a history of WAS in her family who presented with thrombocytopenia, small platelets, and immunologic dysfu...

2002
Georg Wengler Jed B. Gorlin

The Wiskott-Aldrich syndrome (WAS) is an X-linked (Xpll.22) recessive immunodeficiency syndrome characterized by susceptibility to opportunistic and pyogenic infections, thrombocytopenia, and eczema. Previous studies of obligate carriers of WAS documented that nonrandom inactivation of the X chromosome carrying the defective gene is observed in all peripheral blood cells. The existence of b...

Journal: :Archives of ophthalmology 2001
S M Downes G C Black N Hyman M Simmonds J Morris C Barton

A 20-year-old man with WiskottAldrich syndrome (WAS) initially developed a mild visual disturbance that progressed to blindness, increasing neurological deficits, and death within 4 months. Wiskott-Aldrich syndrome is an X-linked immunodeficiency disorder characterized by thrombocytopenia, eczema, and susceptibility to infection. This case illustrates the difficulties in reaching the final diag...

2015
Paula Danielle Santa Maria De Albuquerque Juliana Letícia Poli Maria Eduarda Pontes Cunha De Castro Persio Roxo Jr

Background Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disorder characterized by early microthrombocytopenia, eczematous skin disease and recurrent infections. The syndrome is caused by mutations in gene WAS which codes WASP protein, that is expressed selectively in hematopoietic cells and it is involved in cell signaling and cytoskeleton reorganization. Microthrombocytopenia is...

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