Back to Search Start Over

Ataxia-telangiectasia: Immunodeficiency and survival

Authors :
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
Amos Etzioni
Source :
Clinical Immunology, 178, 45-55, Clinical Immunology, 178, pp. 45-55
Publication Year :
2017
Publisher :
Elsevier BV, 2017.

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.

Details

ISSN :
15216616
Volume :
178
Database :
OpenAIRE
Journal :
Clinical Immunology
Accession number :
edsair.doi.dedup.....6a5525d4f7a4014b8ebe7604f6cff368