Ataxia-telangiectasia: Immunodeficiency and survival

Research output: Contribution to journalArticlepeer-review


  • 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
  • Bart P.c. Van De Warrenburg
  • Corry M.r. Weemaes
  • Nel Roeleveld
  • Michèl A.a.p. Willemsen

Colleges, School and Institutes


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.

Abbreviations: 95% CI, 95% confidence interval; AT, Ataxia-telangiectasia; ATM, Ataxia telangiectasia mutated; AT-HIGM, Hyper IgM phenotype with hypogammaglobulinemia; HR, Hazard ratio; OR, Odds ratio


Original languageEnglish
JournalClinical Immunology
Publication statusPublished - 24 Jan 2017


  • Ataxia telangiectasia , Survival , Hyper IGM phenotype , Primary immunodeficiency