Clinical and immunological presentation of ataxia-telangiectasia
نویسندگان
چکیده
منابع مشابه
Ataxia telangiectasia: Serological Presentation
Ataxia telangiectasia is a rare autosomal recessive multisystem disorder,having an incidence of 1:40,000 to 1:100,000 with an equal ratio in males and females, characterized by cerebellar ataxia, variable immunodeficiency, oculocutaneous telangiectasia, increased x ray hypersensitivity and susceptibility to malignancies. The causative gene has been localized to chromosome 11q22-23. Here a case ...
متن کاملAtaxia-telangiectasia: immunologic profile and clinical outcome
Results In our service, a hundred and thirty patients with the diagnosis of a primary immunodeficiency are followedup and from this sample we have four patients with AT. Acessing clinical history and the laboratory findings becomes clear that a large variability occurs concerning their immune system. All subjects presented recurrent infections, especially sinopulmonary . In laboratory evaluatio...
متن کاملAtaxia-telangiectasia: atypical presentation and toxicity of cancer treatment.
BACKGROUND The onset of progressive cerebellar ataxia in early childhood is considered a key feature of ataxia-telangiectasia (A-T), accompanied by ocular apraxia, telangiectasias, immunodeficiency, cancer susceptibility and hypersensitivity to ionizing radiation. METHODS We describe the clinical features and course of three Mennonite children who were diagnosed with A-T following the complet...
متن کاملAtaxia-telangiectasia
Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mildand late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genoty...
متن کاملAtaxia-telangiectasia.
Ataxia-telangiectasia is a complex syndrome that includes a very high cancer risk in children with a progressive cerebellar ataxia, the onset of which occurs in early infancy. Ocular telangiectasiae often do not appear until several years after the ataxia. The most common type of malignancy is lymphoma, usually of the B-cell type. Leukemias also occur. Failure to diagnose ataxia-telangiectasia ...
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ژورنال
عنوان ژورنال: Archives of the Balkan Medical Union
سال: 2020
ISSN: 1584-9244,2558-815X
DOI: 10.31688/abmu.2020.55.4.03