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Ataxia-telangiectasia: Immunodeficiency and survival
- 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.
- 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
Subjects
Details
- ISSN :
- 15216616
- Volume :
- 178
- Database :
- OpenAIRE
- Journal :
- Clinical Immunology
- Accession number :
- edsair.doi.dedup.....6a5525d4f7a4014b8ebe7604f6cff368