X-Linked Recessive Disorders: Chronic Granulomatous Disease and Wiskott Aldrich Syndrome
نویسندگان
چکیده
منابع مشابه
recessive chronic granulomatous disease
A 2 year old girl presented with epilepsy 16 months after being diagnosed as having autosomal recessive chronic granulomatous disease. Computed tomography showed a cerebral mass which was surgicaily removed and proved histologicaily to be an aspergilloma. This case illustrates the application of molecular diagnostic techniques to the diagnosis of chronic granulomatous disease. The occurrence of...
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 کاملMutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.
HRONIC granulomatous disease (CGD) is an immunoC deficiency syndrome characterized clinically by severe recurrent bacterial and fungal infections that are difficult to treat by conventional means. These infections predominate in the lymph nodes, the subcutaneous tissues, the lungs, the liver and the bones. Gastrointestinal manifestations include diarrhea, perianal abscesses, and obstructions ca...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 1973
ISSN: 0022-202X
DOI: 10.1111/1523-1747.ep12703596