1. Ataxia-telangiectasia: Immunodeficiency and survival
- Author
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Marcel van Deuren, Ásgeir Haraldsson, Corry M.R. Weemaes, Amit Rawat, Anne F.M. Jansen, Nienke J H van Os, Nel Roeleveld, Tomohiro Morio, M.H.D. Schoenaker, Michèl A.A.P. Willemsen, Michiel van der Flier, Nieke T.M. van Driel, Bart P.C. van de Warrenburg, Alex M. Taylor, Charlotte A. Haaxma, Annarosa Soresina, and Amos Etzioni
- Subjects
Male ,0301 basic medicine ,Oncology ,lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] ,Ataxia Telangiectasia Mutated Proteins ,Hyper-IgM Immunodeficiency Syndrome ,Cohort Studies ,Hypogammaglobulinemia ,0302 clinical medicine ,Agammaglobulinemia ,Cause of Death ,Neoplasms ,Odds Ratio ,Immunology and Allergy ,Child ,Immunodeficiency ,IgA Deficiency ,Middle Aged ,Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] ,Survival Rate ,Phenotype ,Female ,medicine.symptom ,Adult ,medicine.medical_specialty ,Ataxia ,Adolescent ,Immunology ,Malignancy ,Ataxia Telangiectasia ,Young Adult ,03 medical and health sciences ,Life Expectancy ,Internal medicine ,medicine ,Humans ,Survival rate ,Proportional Hazards Models ,Retrospective Studies ,business.industry ,Immunologic Deficiency Syndromes ,Retrospective cohort study ,medicine.disease ,Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10] ,030104 developmental biology ,Immunoglobulin G ,Mutation ,Ataxia-telangiectasia ,Primary immunodeficiency ,business ,030217 neurology & neurosurgery - Abstract
Contains fulltext : 174098.pdf (Publisher’s version ) (Open Access) 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.
- Published
- 2017
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