TY  - JOUR
A1  - Bakhtiar, Shahrzad
A1  - Wölke, Sandra
A1  - Hünecke, Sabine
A1  - Kieslich, Matthias
A1  - Taylor, Alexander Malcolm
A1  - Schubert, Ralf
A1  - Zielen, Stefan
A1  - Bader, Peter
T1  - Pre-emptive allogeneic hematopoietic stem cell transplantation in ataxia telangiectasia
T2  - Frontiers in immunology
N2  - 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.
KW  - ataxia telangiectasia
KW  - combined immunodeficiency
KW  - pre-emptive allogeneic hematopoietic stem cell transplantation
KW  - malignancy
KW  - primary immunodeficiency
Y1  - 2018
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/49193
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-491937
SN  - 1664-3224
N1  - 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.
VL  - 9
IS  - Art. 2495
SP  - 1
EP  - 6
PB  - Frontiers Media
CY  - Lausanne
ER  -