Ataxia-telangiectasia: immunologic profile and clinical outcome

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Ataxia-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...

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Ataxia-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...

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Ataxia-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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ATM and ataxia telangiectasia.

Ataxia telangiectasia (AT) has long intrigued the biomedical research community owing to the spectrum of defects that are characteristic of the disease, including neurodegeneration, immune dysfunction, radiosensitivity and cancer predisposition. Following the identification of mutations in ATM (ataxia telangiectasia, mutated) as the underlying cause of the disease, biochemical analysis of this ...

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Ataxia telangiectasia

Onset of the disease is often during the second year of life: there is progressive cerebellar ataxia (initially truncal, with further peripheral extend); ataxia is a constant feature in this disease; oculomotor apraxia, dysarthria, and dystonia; leading to muscular atrophia. Telangiectasia: facial region exposed to sunlight, and eyes (conjunctiva). Combined immunodeficiency (in 70 %): thymus hy...

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ژورنال

عنوان ژورنال: World Allergy Organization Journal

سال: 2015

ISSN: 1939-4551

DOI: 10.1186/1939-4551-8-s1-a203