Wiskott-Aldrich syndrome associated with idiopathic infantile cortical hyperostosis (Caffey's disease).
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 کامل[Infantile cortical hyperostosis].
The genetic aspects of infantile cortical hyperostosis are discussed. A pedigree is presented, based on the history and clinical and radiological investigations of all living members of the family, with data from 11 cases with the condition in two generations, and one possible case from a third generation. The data suggest that an autosomal dominant gene with varying expressivity could be respo...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1973
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.48.10.818