Ataxia-telangiectasia: Immunodeficiency and survival

Publication date: Available online 24 January 2017
Source:Clinical Immunology
Author(s): Nienke J.H. van Os, Anne F.M. Jansen, Marcel van Deuren, Asgeir Haraldsson, Nieke T.M. van Driel, Amos Etzioni, Michiel van der Flier, Charlotte A. Haaxma, Tomohiro Morio, Amit Rawat, Michiel H.D. Schoenaker, Annarosa Soresina, Alexander M.R. Taylor, Bart P.C. van de Warrenburg, Corry M.R. Weemaes, Nel Roeleveld, Michèl A.A.P. Willemsen
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.



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