| Literature DB >> 28126470 |
Nienke J H van Os1, Anne F M Jansen2, Marcel van Deuren2, Asgeir Haraldsson3, Nieke T M van Driel4, Amos Etzioni5, Michiel van der Flier6, Charlotte A Haaxma4, Tomohiro Morio7, Amit Rawat8, Michiel H D Schoenaker9, Annarosa Soresina10, Alexander M R Taylor11, Bart P C van de Warrenburg12, Corry M R Weemaes13, Nel Roeleveld14, Michèl A A P Willemsen4.
Abstract
Ataxia-telangiectasia (AT) is a neurodegenerative disorder characterized by ataxia, telangiectasia, and immunodeficiency. An increased risk of malignancies and respiratory diseases dramatically reduce life expectancy. To better counsel families, develop individual follow-up programs, and select patients for therapeutic trials, more knowledge is needed on factors influencing survival. This retrospective cohort study of 61 AT patients shows that classical AT patients had a shorter survival than variant patients (HR 5.9, 95%CI 2.0-17.7), especially once a malignancy was diagnosed (HR 2.5, 95%CI 1.1-5.5, compared to classical AT patients without malignancy). Patients with the hyper IgM phenotype with hypogammaglobulinemia (AT-HIGM) and patients with an IgG2 deficiency showed decreased survival compared to patients with normal IgG (HR 9.2, 95%CI 3.2-26.5) and patients with normal IgG2 levels (HR 7.8, 95%CI 1.7-36.2), respectively. If high risk treatment trials will become available for AT, those patients with factors indicating the poorest prognosis might be considered for inclusion first.Entities:
Keywords: Ataxia telangiectasia; Hyper IGM phenotype; Primary immunodeficiency; Survival
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Year: 2017 PMID： 28126470 DOI： 10.1016/j.clim.2017.01.009
Source DB: PubMed Journal: Clin Immunol ISSN： 1521-6616 Impact factor: 3.969