Ataxia-telangiectasia: Immunodeficiency and survival

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

doi:10.1016/j.clim.2017.01.009

Ataxia-telangiectasia: Immunodeficiency and survival

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

University of Iceland, Landspitali

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	45-55
Number of pages	11
Journal	Clinical Immunology
Volume	178
DOIs	https://doi.org/10.1016/j.clim.2017.01.009
Publication status	Published - 1 May 2017

Bibliographical note

Other keywords

Ataxia telangiectasia
Hyper IGM phenotype
Primary immunodeficiency
Survival

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.clim.2017.01.009

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van Os, N. J. H., Jansen, A. F. M., van Deuren, M., Haraldsson, A., van Driel, N. T. M., Etzioni, A., van der Flier, M., Haaxma, C. A., Morio, T., Rawat, A., Schoenaker, M. H. D., Soresina, A., Taylor, A. M. R., van de Warrenburg, B. P. C., Weemaes, C. M. R., Roeleveld, N., & Willemsen, M. A. A. P. (2017). Ataxia-telangiectasia: Immunodeficiency and survival. Clinical Immunology, 178, 45-55. https://doi.org/10.1016/j.clim.2017.01.009

@article{dbae8bc2e5944d719a5851594d479cdc,

title = "Ataxia-telangiectasia: Immunodeficiency and survival",

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",

author = "\{van Os\}, \{Nienke J.H.\} and Jansen, \{Anne F.M.\} and \{van Deuren\}, Marcel and Asgeir Haraldsson and \{van Driel\}, \{Nieke T.M.\} and Amos Etzioni and \{van der Flier\}, Michiel and Haaxma, \{Charlotte A.\} and Tomohiro Morio and Amit Rawat and Schoenaker, \{Michiel H.D.\} and Annarosa Soresina and Taylor, \{Alexander M.R.\} and \{van de Warrenburg\}, \{Bart P.C.\} and Weemaes, \{Corry M.R.\} and Nel Roeleveld and Willemsen, \{Mich{\`e}l A.A.P.\}",

note = "Publisher Copyright: {\textcopyright} 2017 Elsevier Inc.",

year = "2017",

month = may,

day = "1",

doi = "10.1016/j.clim.2017.01.009",

language = "English",

volume = "178",

pages = "45--55",

journal = "Clinical Immunology",

issn = "1521-6616",

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van Os, NJH, Jansen, AFM, van Deuren, M, Haraldsson, A, van Driel, NTM, Etzioni, A, van der Flier, M, Haaxma, CA, Morio, T, Rawat, A, Schoenaker, MHD, Soresina, A, Taylor, AMR, van de Warrenburg, BPC, Weemaes, CMR, Roeleveld, N & Willemsen, MAAP 2017, 'Ataxia-telangiectasia: Immunodeficiency and survival', Clinical Immunology, vol. 178, pp. 45-55. https://doi.org/10.1016/j.clim.2017.01.009

TY - JOUR

T1 - Ataxia-telangiectasia

T2 - Immunodeficiency and survival

AU - van Os, Nienke J.H.

AU - Jansen, Anne F.M.

AU - van Deuren, Marcel

AU - Haraldsson, Asgeir

AU - van Driel, Nieke T.M.

AU - Etzioni, Amos

AU - van der Flier, Michiel

AU - Haaxma, Charlotte A.

AU - Morio, Tomohiro

AU - Rawat, Amit

AU - Schoenaker, Michiel H.D.

AU - Soresina, Annarosa

AU - Taylor, Alexander M.R.

AU - van de Warrenburg, Bart P.C.

AU - Weemaes, Corry M.R.

AU - Roeleveld, Nel

AU - Willemsen, Michèl A.A.P.

PY - 2017/5/1

Y1 - 2017/5/1

N2 - 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.

AB - 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.

KW - Ataxia telangiectasia

KW - Hyper IGM phenotype

KW - Primary immunodeficiency

KW - Survival

UR - https://www.scopus.com/pages/publications/85011093965

U2 - 10.1016/j.clim.2017.01.009

DO - 10.1016/j.clim.2017.01.009

M3 - Article

C2 - 28126470

SN - 1521-6616

VL - 178

SP - 45

EP - 55

JO - Clinical Immunology

JF - Clinical Immunology

ER -

Ataxia-telangiectasia: Immunodeficiency and survival

Abstract

Bibliographical note

Other keywords

UN SDGs

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