Ataxia telangiectasia: why should the ERS care?
نویسندگان
چکیده
Affiliations: Nottingham Children’s Hospital, UK Paediatric National Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK. Imperial College and Royal Brompton Hospital, London, UK. Dept of Paediatrics, Division of Respiratory Medicine, Amalia Children’s Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands. Rare Diseases Service and Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Tel Ha Shomer, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. 5Dept of Allergology, Pneumology and Cystic Fibrosis, Children’s Hospital, Goethe-University Theodor-Stern Kai, Frankfurt/Main, Germany. The A-T Society, IACR-Rothamsted, Harpenden, UK. School of Cancer Sciences, University of Birmingham, Birmingham, UK. Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland. Institute of Medical Sciences, University of Aberdeen and the Royal Aberdeen Children’s Hospital, Aberdeen, UK.
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women with breast cancer. Oncologist 2014; 19: 1216–1226. 8 Katayama N, Sato S, Katsui K, et al. Analysis of factors associated with radiation-induced bronchiolitis obliterans organizing pneumonia syndrome after breast-conserving therapy. Int J Radiat Oncol Biol Phys 2009; 73: 1049–1054. 9 Bhatt JM, Bush A, van Gerven M, et al. A statement on the multidisciplinary respiratory management of atax...
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Ataxia-Telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA (mtDN...
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Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer. Respiratory manifestations include immune dysfunction leading to recurrent upper and lower respiratory infections; aspiration resulting ...
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Ataxia-Telangiectasia is a rare multisystem autosomal recessive disorder [OMIM 208900], caused by mutations in Ataxia-Telangiectasia Mutated gene. It is characterized by neurological, immunological and cutaneous involvement. Granulomas have been previously reported in Ataxia-Telangiectasia patients, even if acne rosacea has not been described.We report a case of a young Ataxia-Telangiectasia pa...
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عنوان ژورنال:
- The European respiratory journal
دوره 46 6 شماره
صفحات -
تاریخ انتشار 2015