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Authorsvan Os, Nienke J H
Jansen, Anne F M
van Deuren, Marcel
van Driel, Nieke T M
van der Flier, Michiel
Haaxma, Charlotte A
Schoenaker, Michiel H D
Taylor, Alexander M R
van de Warrenburg, Bart P C
Weemaes, Corry M R
Willemsen, Michèl A A P
MetadataShow full item record
CitationAtaxia-telangiectasia: Immunodeficiency and survival. 2017, 178:45-55 Clin. Immunol.
AbstractAtaxia-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.
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RightsArchived with thanks to Clinical immunology (Orlando, Fla.)
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