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Outcome of Hematopoietic Cell Transplantation for DNA-Double Strand Breakage Repair Disorders.

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Date
2017-04-06
Authors
Slack, James
Albert, Michael H
Balashov, Dmitry
Belohradsky, Bernd H
Bertaina, Alice
Bleesing, Jack
Booth, Claire
Buechner, Jochen
Buckley, Rebecca H
Ouachée-Chardin, Marie
Deripapa, Elena
Drabko, Katarzyna
Eapen, Mary
Feuchtinger, Tobias
Finocchi, Andrea
Gaspar, H Bobby
Ghosh, Sujal
Gillio, Alfred
Gonzalez-Granado, Luis I
Grunebaum, Eyal
Güngör, Tayfun
Heilmann, Carsten
Helminen, Merja
Higuchi, Kohei
Imai, Kohsuke
Kalwak, Krzysztof
Kanazawa, Nubuo
Karasu, Gülsün
Kucuk, Zeynep Y
Laberko, Alexandra
Lange, Andrzej
Mahlaoui, Nizar
Meisel, Roland
Moshous, D
Muramatsu, Hideki
Parikh, Suhag
Pasic, Srdjan
Schmid, Irene
Schuetz, Catharina
Schulz, Ansgar
Schultz, Kirk R
Shaw, Peter J
Slatter, Mary A
Sykora, Karl-Walter
Tamura, Shinobu
Taskinen, Mervi
Wawer, Angela
Wolska-Kuśnierz, Beata
Cowan, Morton J
Fischer, Alain
Gennery, Andrew R
Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies
Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE)
Center for International Blood and Marrow Transplant Research
Primary Immunodeficiency Treatment Consortium
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Abstract
BACKGROUND: Rare DNA breakage-repair disorders predispose to infection and lympho-reticular malignancies. Hematopoietic cell transplantation (HCT) is curative but co-administered chemo- or radio-therapy is damaging due to systemic radio-sensitivity. We collected HCT outcome data for Nijmegen Breakage syndrome (NBS), DNA ligase IV deficiency (LIG4), Cernunnos-XLF deficiency and ataxia-telangiectasia. METHODS: Data from 38 centres worldwide, including indication, donor, conditioning regimen, graft-versus-host disease (GvHD) and outcome were analyzed. Conditioning was classified as myeloablative (MAC) if it contained radiotherapy or alkylators and reduced intensity (RIC) if no alkylators and/or fludarabine ≤150 mg/m(2) and cyclophosphamide ≤ 40 mg/kg were used. RESULTS: 55 new, 14 updated and 18 previously published patients were analyzed. Median age at HCT was 48 (range 1.5 - 552) months. 29 were transplanted for infection, 21 malignancy, 13 bone marrow failure, 13 pre-emptively, 5 had multiple indications, and 6 had no information. 22 received MAC, 59 RIC, 4 were infused;- information unavailable for 2. 73/77 patients with LIG4, Cernunnos-XLF deficiency or NBS received conditioning. Survival was 53/77 (69%), worse for MAC than RIC (p=0.006). Most deaths occurred early post-transplant suggesting poor tolerance of conditioning. Survival in ataxia-telangiectasia patients was 25%. 41/83 patients experienced aGvHD (49%): less in RIC compared to MAC, 26/56 (46%) vs 12/21 (57%) (p=0.45). Median follow-up was 35 (range 2-168) months. No secondary malignancies were reported during 15 years follow-up. Growth and developmental delay remained post-HCT; immune-mediated complications resolved. CONCLUSION: RIC-HCT resolves DNA repair disorder-associated immunodeficiency. Long-term follow-up is required for secondary malignancy surveillance. Routine HCT for ataxia-telangiectasia is not recommended.
Type
Journal article
Subject
Ataxia-Telangiectasia
Cernunnos-XLF deficiency
DNA Ligase 4 deficiency
DNA repair disorders
Hematopoietic stem cell transplantation
Nijmegen Breakage syndrome
Permalink
https://hdl.handle.net/10161/14232
Published Version (Please cite this version)
10.1016/j.jaci.2017.02.036
Publication Info
Slack, James; Albert, Michael H; Balashov, Dmitry; Belohradsky, Bernd H; Bertaina, Alice; Bleesing, Jack; ... Primary Immunodeficiency Treatment Consortium (2017). Outcome of Hematopoietic Cell Transplantation for DNA-Double Strand Breakage Repair Disorders. J Allergy Clin Immunol. 10.1016/j.jaci.2017.02.036. Retrieved from https://hdl.handle.net/10161/14232.
This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
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Scholars@Duke

Buckley

Rebecca Hatcher Buckley

James Buren Sidbury Distinguished Professor of Pediatrics, in the School of Medicine
The overall emphasis of Dr. Buckley's research is in human T,B and NK cell development and in aberrations in their development and regulation. The work involves three particular areas of investigation: 1) the cellular and molecular bases of genetically-determined human immunodeficiency diseases, 2) the use of bone marrow stem cells to cure genetically-determined immunodeficiency diseases, and 3) the use of human SCID bone marrow stem cell chimeras to study human thymic education, T and B cell on
Parikh

Suhag H. Parikh

Associate Professor of Pediatrics
Stem cell transplantation for a variety of disorders - ranging from malignant diseases such as leukemia, lymphoma and myelodysplastic syndrome to nonmalignant diseases such as sickle cell disease, thalassemias, aplastic anemia, histiocytosis and leukodystrophies. My clinical research interest is stem cell transplantation for children with primary immune deficiency disorders and hemoglobinopathies such as sickle cell anemia,thalassemia and other non-malignant disorders. In addition,I am intereste
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