A Disease Mechanism Underlying Bleeding in Wiskott-Aldrich Syndrome
نویسندگان
چکیده
منابع مشابه
Disease mechanism: Unravelling Wiskott–Aldrich syndrome
The gene responsible for Wiskott-Aldrich syndrome, a disease affecting platelets and lymphocytes, has been cloned and its protein product (WASp) found to interact with the GTPase Cdc42. WASp seems to provide a link between Cdc42 and the actin cytoskeleton, perhaps explaining the cellular defects underlying the disease.
متن کاملWiskott-Aldrich syndrome: a multidisciplinary disease.
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...
متن کامل[The Wiskott-Aldrich syndrome].
can occur, the observed improvement cannot necessarily b)e attributed to the transfer factor. However, in two patients repeated remissions consistently followed transfer factor administration on repeated occasions. This included freedom from infections, regression of splenomegaly, and clearing of eczema. An unexpected finding was a decrease in bleeding in 3 of the 10 patients who had bleeding. ...
متن کاملAtypical Wiskott-Aldrich syndrome in a girl.
Wiskott-Aldrich syndrome (WAS) is a fully penetrant X-linked recessive disorder characterized by thrombocytopenia with small platelets, eczema, and defects of both T-cell and B-cell immunity. Obligate carriers of this disorder show no signs of the gene defect because in the cell lineages primarily affected by the disorder they demonstrate preferential use of the normal, nonmutant X as the activ...
متن کاملWiskott-Aldrich syndrome in a female.
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...
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ژورنال
عنوان ژورنال: Clinical medicine. Blood disorders
سال: 2008
ISSN: 1178-2269
DOI: 10.4137/cmbd.s536