Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency-Reference-Cited by-同舟云学术

Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency

Published:2020-10-06 Issue:1 Volume:41 Page:238-242
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

https://link.springer.com/content/pdf/10.1007/s10875-020-00871-x.pdf

Reference11 articles.

1. Ellenberger T, Tomkinson AE. Eukaryotic DNA ligases: structural and functional insights. Annu Rev Biochem. 2008;77:313–38.

2. Howes TR, Tomkinson AE. DNA ligase I, the replicative DNA ligase. Subcell Biochem. 2012;62:327–41.

3. 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.

4. 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.

5. 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.

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1. Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity;Journal of Clinical Immunology;2024-06-19

2. Infections in DNA Repair Defects;Pathogens;2023-03-10

3. Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation;Frontiers in Immunology;2022-10-19