A new ataxia-telangiectasia mutation in an 11-year-old female

被引:0
|
作者
Esmaeil Mortaz
Sayed Mehran Marashian
Hosseinali Ghaffaripour
Mohammad Varahram
Payam Mehrian
Atosa Dorudinia
Johan Garssen
Ian M. Adcock
Malcolm Taylor
Seyed Alireza Mahdaviani
机构
[1] Shahid Beheshti University of Medical Sciences,Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD)
[2] Utrecht University,Division of Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Faculty of Science
[3] Shahid Beheshti University of Medical Sciences,Chronic Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD)
[4] Shahid Beheshti University of Medical Sciences,Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, NRITLD
[5] Shahid Beheshti University of Medical Sciences,Mycobacteriology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Masih Daneshvari Hospital
[6] Nutricia Research Centre for Specialized Nutrition,Cell and Molecular Biology Group, Airways Disease Section, Faculty of Medicine, National Heart and Lung Institute
[7] Imperial College London,Priority Research Centre for Healthy Lungs, Hunter Medical Research Institute
[8] The University of Newcastle,Institute of Cancer and Genomic Sciences
[9] University of Birmingham,undefined
来源
Immunogenetics | 2017年 / 69卷
关键词
A-t; Mutation; Female;
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学科分类号
摘要
Ataxia-telangiectasia (A-T), a rare inherited disorder, usually affects the nervous and immune systems, and occasionally other organs. A-T is associated mainly with mutations in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase that has a major role in the cellular response to DNA damage. We report here a novel ATM mutation (c.3244_3245insG; p.His1082fs) in an 11-year old female. This subject presented with typical features, with the addition of chest manifestations including mediastinal lymphadenopathy and diffuse bilateral micronodular infiltration of the lungs, along with a high EBV titer. The subject died as a result of rapid B-cell lymphoma progression before chemotherapy could be initiated. This case highlights the need for the rapid diagnosis of A-T mutations and the detection of associated life-threatening outcomes such as cancers.
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页码:415 / 419
页数:4
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