Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity

Driessen, Gertjan J.; IJspeert, Hanna; Weemaes, C.M.R.; Haraldsson, Ásgeir; Trip, Margreet; Warris, Adilia; Flier, Michiel van der; Wulffraat, Nico; Verhagen, Mijke M.M.; Taylor, Malcolm; Zelm, Menno C. van; Dongen, Jacques J. M. van; Deuren, Marcel van; Burg, Mirjam van der

doi:10.1016/j.jaci.2013.01.053

Cited by 107 publications

(100 citation statements)

References 33 publications

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“…This is multifactorial, with both reduction of circulating T-and B-cell numbers (caused by reduced thymic output and increased apoptosis) and abnormal lymphocyte function (restricted antigen receptor repertoires, abnormal B-cell class switching and disturbed naive B-and T-cell homeostasis) contributing to the clinical phenotype [10,11]. The variable severity of antibody deficiency is related to disturbed naive B-and T-cell homeostasis, probably because of reduced B-and T-cell production linked to disturbed V(D)J gene segment recombination, and consequently a limited B-and T-cell receptor repertoire.…”

Section: Immune Deficiencymentioning

confidence: 99%

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

et al. 2015

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Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer. Respiratory manifestations include immune dysfunction leading to recurrent upper and lower respiratory infections; aspiration resulting from dysfunctional swallowing due to neurodegenerative deficits; inefficient cough; and interstitial lung disease/pulmonary fibrosis. Malnutrition is a significant comorbidity. The increased radiosensitivity and increased risk of cancer should be borne in mind when requesting radiological investigations. Aggressive proactive monitoring and treatment of these various aspects of lung disease under multidisciplinary expertise in the experience of national multidisciplinary clinics internationally forms the basis of this statement on the management of lung disease in A-T. Neurological management is outwith the scope of this document.

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Section: Immune Deficiencymentioning

confidence: 99%

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

et al. 2015

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“…For example, patients with AT have an increased frequency of IGG1 and IGG3 transcripts (Fig. 6C) (15).…”

Section: Applications Of Argalaxymentioning

confidence: 99%

“…DNA was isolated using direct lysis (16), and IGH rearrangements were amplified and sequenced using Roche 454 sequencing as previously described (14,15). In short, IGH rearrangements were amplified using a multiplex PCR using the forward VH1-6 FR1 and reverse JH consensus BIOMED-2 primers (17).…”

Section: Repertoire Sequencing Using Next-generation Sequencingmentioning

confidence: 99%

“…In short, IGH rearrangements were amplified using a multiplex PCR using the forward VH1-6 FR1 and reverse JH consensus BIOMED-2 primers (17). These PCR products were purified and sequenced using Roche 454 sequencing as previously described (14,15). In short, PCR products were purified by gel extraction (Qiagen, Valencia, CA) and Agencourt AMPure XP beads (Beckman Coulter, Fullerton, CA).…”

Section: Repertoire Sequencing Using Next-generation Sequencingmentioning

confidence: 99%

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Antigen Receptor Galaxy: A User-Friendly, Web-Based Tool for Analysis and Visualization of T and B Cell Receptor Repertoire Data

IJspeert

Schouwenburg

Zessen

et al. 2017

The Journal of Immunology

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Antigen Receptor Galaxy (ARGalaxy) is a Web-based tool for analyses and visualization of TCR and BCR sequencing data of 13 species. ARGalaxy consists of four parts: the demultiplex tool, the international ImMunoGeneTics information system (IMGT) concatenate tool, the immune repertoire pipeline, and the somatic hypermutation (SHM) and class switch recombination (CSR) pipeline. Together they allow the analysis of all different aspects of the immune repertoire. All pipelines can be run independently or combined, depending on the available data and the question of interest. The demultiplex tool allows data trimming and demultiplexing, whereas with the concatenate tool multiple IMGT/HighV-QUEST output files can be merged into a single file. The immune repertoire pipeline is an extended version of our previously published ImmunoGlobulin Galaxy (IGGalaxy) virtual machine that was developed to visualize V(D)J gene usage. It allows analysis of both BCR and TCR rearrangements, visualizes CDR3 characteristics (length and amino acid usage) and junction characteristics, and calculates the diversity of the immune repertoire. Finally, ARGalaxy includes the newly developed SHM and CSR pipeline to analyze SHM and/or CSR in BCR rearrangements. It analyzes the frequency and patterns of SHM, Ag selection (including BASELINe), clonality (Change-O), and CSR. The functionality of the ARGalaxy tool is illustrated in several clinical examples of patients with primary immunodeficiencies. In conclusion, ARGalaxy is a novel tool for the analysis of the complete immune repertoire, which is applicable to many patient groups with disturbances in the immune repertoire such as autoimmune diseases, allergy, and leukemia, but it can also be used to address basic research questions in repertoire formation and selection.

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“…A parallel mechanism of the neurodegenerative process and the liver AFP production may exist 8 . Patients with A-T have disturbed naive B-cell and T-cell homeostasis, most likely because of reduced B-cell and T-cell production linked to disturbed V(D) J recombination, and consequently have a limited B-cell and T-cell receptor repertoire 9 . Treatment of A-T is symptomatic and supportive.…”

Section: Case Reportmentioning

confidence: 99%

A Rare Case of Ataxia Telangiectasia in Malaysia

Ashari

Hamid

2017

Bangladesh J Med Sci

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Ataxia telangiectasia is a primary immunodeficiency disease that affects multiple organs systems. Affected patients typically manifest ataxia, immune function abnormalities, sinopulmonary infections, and telangiectasia. Ataxia telangiectasia is listed as a rare disease by the Office of Rare Diseases [ORD] of the National Institutes of Health [NIH]. Because ataxia telangiectasia is so rare, doctors may not be familiar with the symptoms, or methods of making a diagnosis. Not all children develop in the same manner or at the same rate; it may be some years before ataxia telangiectasia is properly diagnosed. We report a rare case of ataxia telangiectasia in Malaysia who was diagnosed only at the age of 10 years.

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Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity

Cited by 107 publications

References 33 publications

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

Antigen Receptor Galaxy: A User-Friendly, Web-Based Tool for Analysis and Visualization of T and B Cell Receptor Repertoire Data

A Rare Case of Ataxia Telangiectasia in Malaysia

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