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Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia

Ataxia telangiectasia (A-T) is a primary immunodeficiency with mutations in the gene encoding the A-T mutated (ATM) protein that interacts with immune, hematopoietic, and endocrine targets resulting in broad multi-systemic clinical manifestations with a devastating outcome. Apart from a progressive...

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Autores principales: Bakhtiar, Shahrzad, Woelke, Sandra, Huenecke, Sabine, Kieslich, Matthias, Taylor, Alexander Malcolm, Schubert, Ralf, Zielen, Stefan, Bader, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215822/
https://www.ncbi.nlm.nih.gov/pubmed/30420857
http://dx.doi.org/10.3389/fimmu.2018.02495
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author Bakhtiar, Shahrzad
Woelke, Sandra
Huenecke, Sabine
Kieslich, Matthias
Taylor, Alexander Malcolm
Schubert, Ralf
Zielen, Stefan
Bader, Peter
author_facet Bakhtiar, Shahrzad
Woelke, Sandra
Huenecke, Sabine
Kieslich, Matthias
Taylor, Alexander Malcolm
Schubert, Ralf
Zielen, Stefan
Bader, Peter
author_sort Bakhtiar, Shahrzad
collection PubMed
description Ataxia telangiectasia (A-T) is a primary immunodeficiency with mutations in the gene encoding the A-T mutated (ATM) protein that interacts with immune, hematopoietic, and endocrine targets resulting in broad multi-systemic clinical manifestations with a devastating outcome. Apart from a progressive neurodegenerative disorder, A-T leads to significantly increased susceptibility to malignancies. It is a matter of discussion whether pre-emptive allogeneic hematopoietic stem cell transplantation (alloHSCT) using a reduced intensity conditioning regimen would be an option to restore immune-competence and prevent malignancy, as shown in animal models, because conventional treatment protocols of malignant diseases using radio- and/or chemotherapy have a high rate of therapy-related morbidity and mortality in these patients. We present the course of the disease, including immune reconstitution and neurological outcome following pre-emptive alloHSCT in a 4-year-old boy with A-T on a 6 year follow-up. Our manuscript provides a proof-of-concept of alloHSCT as an individual pre-emptive treatment strategy from which some A-T patients might benefit.
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spelling pubmed-62158222018-11-12 Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia Bakhtiar, Shahrzad Woelke, Sandra Huenecke, Sabine Kieslich, Matthias Taylor, Alexander Malcolm Schubert, Ralf Zielen, Stefan Bader, Peter Front Immunol Immunology Ataxia telangiectasia (A-T) is a primary immunodeficiency with mutations in the gene encoding the A-T mutated (ATM) protein that interacts with immune, hematopoietic, and endocrine targets resulting in broad multi-systemic clinical manifestations with a devastating outcome. Apart from a progressive neurodegenerative disorder, A-T leads to significantly increased susceptibility to malignancies. It is a matter of discussion whether pre-emptive allogeneic hematopoietic stem cell transplantation (alloHSCT) using a reduced intensity conditioning regimen would be an option to restore immune-competence and prevent malignancy, as shown in animal models, because conventional treatment protocols of malignant diseases using radio- and/or chemotherapy have a high rate of therapy-related morbidity and mortality in these patients. We present the course of the disease, including immune reconstitution and neurological outcome following pre-emptive alloHSCT in a 4-year-old boy with A-T on a 6 year follow-up. Our manuscript provides a proof-of-concept of alloHSCT as an individual pre-emptive treatment strategy from which some A-T patients might benefit. Frontiers Media S.A. 2018-10-29 /pmc/articles/PMC6215822/ /pubmed/30420857 http://dx.doi.org/10.3389/fimmu.2018.02495 Text en Copyright © 2018 Bakhtiar, Woelke, Huenecke, Kieslich, Taylor, Schubert, Zielen and Bader. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Bakhtiar, Shahrzad
Woelke, Sandra
Huenecke, Sabine
Kieslich, Matthias
Taylor, Alexander Malcolm
Schubert, Ralf
Zielen, Stefan
Bader, Peter
Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia
title Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia
title_full Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia
title_fullStr Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia
title_full_unstemmed Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia
title_short Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia
title_sort pre-emptive allogeneic hematopoietic stem cell transplantation in ataxia telangiectasia
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215822/
https://www.ncbi.nlm.nih.gov/pubmed/30420857
http://dx.doi.org/10.3389/fimmu.2018.02495
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