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Erschienen in: Journal of Clinical Immunology 1/2021

06.10.2020 | Letter to Editor

Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency

verfasst von: Juliana M. F. Silva, Alison Jones, Keith Sibson, Shahnaz Bibi, Penny Jeggo, Lisa Woodbine, Gulrukh Ahsan, Kimberly C. Gilmour, Kanchan Rao, Robert Chiesa, Giovanna Lucchini, Paul Veys, Austen Worth, Persis J. Amrolia

Erschienen in: Journal of Clinical Immunology | Ausgabe 1/2021

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Excerpt

To the Editor: …
Literatur
1.
Zurück zum Zitat Ellenberger T, Tomkinson AE. Eukaryotic DNA ligases: structural and functional insights. Annu Rev Biochem. 2008;77:313–38.CrossRef Ellenberger T, Tomkinson AE. Eukaryotic DNA ligases: structural and functional insights. Annu Rev Biochem. 2008;77:313–38.CrossRef
2.
Zurück zum Zitat Howes TR, Tomkinson AE. DNA ligase I, the replicative DNA ligase. Subcell Biochem. 2012;62:327–41.CrossRef Howes TR, Tomkinson AE. DNA ligase I, the replicative DNA ligase. Subcell Biochem. 2012;62:327–41.CrossRef
3.
Zurück zum Zitat Maffucci P, Chavez J, Jurkiw TJ, O'Brien PJ, Abbott JK, Reynolds PR, et al. Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies. J Clin Invest. 2018;128(12):5489–504.CrossRef Maffucci P, Chavez J, Jurkiw TJ, O'Brien PJ, Abbott JK, Reynolds PR, et al. Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies. J Clin Invest. 2018;128(12):5489–504.CrossRef
4.
Zurück zum Zitat Webster AD, Barnes DE, Arlett CF, Lehmann AR, Lindahl T. Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet. 1992;339(8808):1508–9.CrossRef Webster AD, Barnes DE, Arlett CF, Lehmann AR, Lindahl T. Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet. 1992;339(8808):1508–9.CrossRef
5.
Zurück zum Zitat Woodbine L, Grigoriadou S, Goodarzi AA, Riballo E, Tape C, Oliver AW, et al. An Artemis polymorphic variant reduces Artemis activity and confers cellular radiosensitivity. DNA Repair. 2010;9(9):1003–10.CrossRef Woodbine L, Grigoriadou S, Goodarzi AA, Riballo E, Tape C, Oliver AW, et al. An Artemis polymorphic variant reduces Artemis activity and confers cellular radiosensitivity. DNA Repair. 2010;9(9):1003–10.CrossRef
6.
Zurück zum Zitat Löser DA, Shibata A, Shibata AK, Woodbine LJ, Jeggo PA, Chalmers AJ. Sensitization to radiation and alkylating agents by inhibitors of poly (ADP-ribose) polymerase is enhanced in cells deficient in DNA double-strand break repair. Mol Cancer Ther. 2010;9(6):1775–87.CrossRef Löser DA, Shibata A, Shibata AK, Woodbine LJ, Jeggo PA, Chalmers AJ. Sensitization to radiation and alkylating agents by inhibitors of poly (ADP-ribose) polymerase is enhanced in cells deficient in DNA double-strand break repair. Mol Cancer Ther. 2010;9(6):1775–87.CrossRef
7.
Zurück zum Zitat Teo IA, Alrett CF, Harcourt SA, Priestley A, Broughton BC. Multiple hypersensitivity to mutagens in a cell strain (46BR) derived from a patient with immunodeficiencies. Mutat Res. 1983;107:371–86.CrossRef Teo IA, Alrett CF, Harcourt SA, Priestley A, Broughton BC. Multiple hypersensitivity to mutagens in a cell strain (46BR) derived from a patient with immunodeficiencies. Mutat Res. 1983;107:371–86.CrossRef
8.
Zurück zum Zitat Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E, et al. A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol. 2006;176(8):5060–8.CrossRef Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E, et al. A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol. 2006;176(8):5060–8.CrossRef
9.
Zurück zum Zitat van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH, et al. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J Clin Invest. 2006;116(1):137–45.CrossRef van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH, et al. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J Clin Invest. 2006;116(1):137–45.CrossRef
10.
Zurück zum Zitat Buck D, Moshous D, de Chasseval R, Ma Y, le Deist F, Cavazzana-Calvo M, et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006;36(1):224–35.CrossRef Buck D, Moshous D, de Chasseval R, Ma Y, le Deist F, Cavazzana-Calvo M, et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006;36(1):224–35.CrossRef
11.
Zurück zum Zitat Grunebaum E, Bates A, Roifman CM. Omenn syndrome is associated with mutations in DNA ligase IV. J Allergy Clin Immunol. 2008;122(6):1219–20.CrossRef Grunebaum E, Bates A, Roifman CM. Omenn syndrome is associated with mutations in DNA ligase IV. J Allergy Clin Immunol. 2008;122(6):1219–20.CrossRef
Metadaten
Titel
Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency
verfasst von
Juliana M. F. Silva
Alison Jones
Keith Sibson
Shahnaz Bibi
Penny Jeggo
Lisa Woodbine
Gulrukh Ahsan
Kimberly C. Gilmour
Kanchan Rao
Robert Chiesa
Giovanna Lucchini
Paul Veys
Austen Worth
Persis J. Amrolia
Publikationsdatum
06.10.2020
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 1/2021
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00871-x

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