Fatal Cytomegalovirus Gastrointestinal Disease in an Infant with Wiskott-Aldrich Syndrome
نویسندگان
چکیده
منابع مشابه
Wiskott-Aldrich syndrome with macrothrombocytopenia.
BACKGROUND Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype. CASE CHARACTERISTICS 3.5-year-old boy diagnosed with Wiskott-Aldrich syndrome. OBSERVATION Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome. OUTCOME Maternally inherited...
متن کاملDisease 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 کاملA male infant with eczema and persistent thrombocytopenia, without micro-platelets: an atypical Wiskott-Aldrich syndrome?
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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ژورنال
عنوان ژورنال: Journal of the Formosan Medical Association
سال: 2008
ISSN: 0929-6646
DOI: 10.1016/s0929-6646(08)60009-1