دورية أكاديمية
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders
العنوان: | Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders |
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المؤلفون: | Slack J., Albert M. H., Balashov D., Belohradsky B. H., Bertaina A., Bleesing J., Booth C., Buechner J., Buckley R. H., Ouachee-Chardin M., Deripapa E., Drabko K., Eapen M., Feuchtinger T., Finocchi A., Gaspar H. B., Ghosh S., Gillio A., Gonzalez-Granado L. I., Grunebaum E., Gungor T., Heilmann C., Helminen M., Higuchi K., Imai K., Kalwak K., Kanazawa N., Karasu G., Kucuk Z. Y., Laberko A., Lange A., Mahlaoui N., Meisel R., Moshous D., Muramatsu H., Parikh S., Pasic S., Schmid I., Schuetz C., Schulz A., Schultz K. R., Shaw P. J., Slatter M. A., Sykora K. -W., Tamura S., Taskinen M., Wawer A., Wolska-Kusnierz B., Cowan M. J., Fischer A., Gennery A. R. |
المساهمون: | Slack, J, Albert, Mh, Balashov, D, Belohradsky, Bh, Bertaina, A, Bleesing, J, Booth, C, Buechner, J, Buckley, Rh, Ouachee-Chardin, M, Deripapa, E, Drabko, K, Eapen, M, Feuchtinger, T, Finocchi, A, Gaspar, Hb, Ghosh, S, Gillio, A, Gonzalez-Granado, Li, Grunebaum, E, Gungor, T, Heilmann, C, Helminen, M, Higuchi, K, Imai, K, Kalwak, K, Kanazawa, N, Karasu, G, Kucuk, Zy, Laberko, A, Lange, A, Mahlaoui, N, Meisel, R, Moshous, D, Muramatsu, H, Parikh, S, Pasic, S, Schmid, I, Schuetz, C, Schulz, A, Schultz, Kr, Shaw, Pj, Slatter, Ma, Sykora, K-, Tamura, S, Taskinen, M, Wawer, A, Wolska-Kusnierz, B, Cowan, Mj, Fischer, A, Gennery, Ar |
بيانات النشر: | MOSBY-ELSEVIER |
سنة النشر: | 2018 |
المجموعة: | Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca |
مصطلحات موضوعية: | Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA ligase IV deficiency, DNA repair disorder, Nijmegen breakage syndrome, hematopoietic stem cell transplantation, Adolescent, Allele, Child, Preschool, DNA Repair-Deficiency Disorder, Female, Follow-Up Studie, Graft vs Host Disease, Human, Infant, Kaplan-Meier Estimate, Male, Mutation, Prognosi, Treatment Outcome, Virus Disease, Young Adult, DNA Breaks, Double-Stranded, DNA Repair, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA |
الوصف: | Background: Rare DNA breakage repair disorders predispose to infection and lymphoreticular malignancies. Hematopoietic cell transplantation (HCT) is curative, but coadministered chemotherapy or radiotherapy is damaging because of systemic radiosensitivity. We collected HCT outcome data for Nijmegen breakage syndrome, DNA ligase IV deficiency, Cernunnos-XRCC4-like factor (Cernunnos-XLF) deficiency, and ataxia-telangiectasia (AT).Methods: Data from 38 centers worldwide, including indication, donor, conditioning regimen, graft-versus-host disease, and outcome, were analyzed. Conditioning was classified as myeloablative conditioning (MAC) if it contained radiotherapy or alkylators and reduced-intensity conditioning (RIC) if no alkylators and/or 150 mg/m(2) fludarabine or less and 40 mg/kg cyclophosphamide or less were used.Results: Fifty-five new, 14 updated, and 18 previously published patients were analyzed. Median age at HCT was 48 months (range, 1.5-552 months). Twenty-nine patients underwent transplantation for infection, 21 had malignancy, 13 had bone marrow failure, 13 received pre-emptive transplantation, 5 had multiple indications, and 6 had no information. Twenty-two received MAC, 59 received RIC, and 4 were infused; information was unavailable for 2 patients. Seventy-three of 77 patients with DNA ligase IV deficiency, Cernunnos-XLF deficiency, or Nijmegen breakage syndrome received conditioning. Survival was 53 (69%) of 77 and was worse for those receiving MAC than for those receiving RIC (P=.006). Most deaths occurred early after transplantation, suggesting poor tolerance of conditioning. Survival in patients with AT was 25%. Forty-one (49%) of 83 patients experienced acute GvHD, which was less frequent in those receiving RIC compared with those receiving MAC (26/56 [46%] vs 12/21 [57%], P=.45). Median follow-up was 35 months (range, 2-168 months). No secondary malignancies were reported during 15 years of follow-up. Growth and developmental delay remained after HCT; immune-mediated complications ... |
نوع الوثيقة: | article in journal/newspaper |
اللغة: | English |
العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/28392333; info:eu-repo/semantics/altIdentifier/wos/WOS:000419312200037; volume:141; issue:1; firstpage:322; lastpage:328.e10; journal:THE JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/2108/233839Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018987484 |
DOI: | 10.1016/j.jaci.2017.02.036 |
الإتاحة: | https://doi.org/10.1016/j.jaci.2017.02.036Test http://hdl.handle.net/2108/233839Test |
حقوق: | info:eu-repo/semantics/restrictedAccess |
رقم الانضمام: | edsbas.BD008F5E |
قاعدة البيانات: | BASE |
DOI: | 10.1016/j.jaci.2017.02.036 |
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