Author information
- 1
- Department of Neurology - Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: nienke.vanos@radboudumc.nl.
- 2
- Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
- 3
- University of Iceland, Faculty of Medicine, and Children's Hospital Iceland, Landspitali-University Hospital, Iceland.
- 4
- Department of Neurology - Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
- 5
- Department of Pediatrics and the Pediatric Immunology Unit, Ruth Children's Hospital, Rambam Medical Center, Rappaport Faculty of Medicine, Technion, Haifa, Israel.
- 6
- Department of Pediatrics - Pediatric Infectious Disease and Immunology, Radboudumc Amalia Children's Hospital, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
- 7
- Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
- 8
- Department of Paediatrics, Advanced Paediatric Centre, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
- 9
- Department of Pediatrics, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
- 10
- Department of Pediatrics, Institute of Molecular Medicine, University of Brescia, Brescia, Italy.
- 11
- School of Cancer Sciences, University of Birmingham, Birmingham, United Kingdom.
- 12
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
- 13
- Department of Pediatrics, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Pediatrics - Pediatric Infectious Disease and Immunology, Radboudumc Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.
- 14
- Department of Pediatrics, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands.
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.
KEYWORDS:
Ataxia telangiectasia; Hyper IGM phenotype; Primary immunodeficiency; Survival
- PMID:
- 28126470
- DOI:
- 10.1016/j.clim.2017.01.009
- [Indexed for MEDLINE]