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 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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Author:Shahrzad Bakhtiar, Sandra Wölke, Sabine HüneckeGND, Matthias Kieslich, Alexander Malcolm Taylor, Ralf Schubert, Stefan ZielenORCiDGND, Peter BaderORCiDGND
Pubmed Id:
Parent Title (English):Frontiers in immunology
Publisher:Frontiers Media
Place of publication:Lausanne
Contributor(s):Guzide Aksu
Document Type:Article
Year of Completion:2018
Date of first Publication:2018/10/29
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2019/02/26
Tag:ataxia telangiectasia; combined immunodeficiency; malignancy; pre-emptive allogeneic hematopoietic stem cell transplantation; primary immunodeficiency
Issue:Art. 2495
Page Number:6
First Page:1
Last Page:6
Copyright © 2018 Bakhtiar, Woelke, Huenecke, Kieslich, Taylor, Schubert, Zielen and Bader. 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.
Institutes:Medizin / Medizin
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):License LogoCreative Commons - Namensnennung 4.0