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Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency.
Curr Allergy Asthma Rep. 2020 Jul 09; 20(10):57.CA

Abstract

PURPOSE OF REVIEW

The most serious DNA damage, DNA double strand breaks (DNA-dsb), leads to mutagenesis, carcinogenesis or apoptosis if left unrepaired. Non-homologous end joining (NHEJ) is the principle repair pathway employed by mammalian cells to repair DNA-dsb. Several proteins are involved in this pathway, defects in which can lead to human disease. This review updates on the most recent information available for the specific diseases associated with the pathway.

RECENT FINDINGS

A new member of the NHEJ pathway, PAXX, has been identified, although no human disease has been associated with it. The clinical phenotypes of Artemis, DNA ligase 4, Cernunnos-XLF and DNA-PKcs deficiency have been extended. The role of haematopoietic stem cell transplantation, following reduced intensity conditioning chemotherapy, for many of these diseases is being advanced. In the era of newborn screening, urgent genetic diagnosis is necessary to correctly target appropriate treatment for patients with DNA-dsb repair disorders.

Authors+Show Affiliations

Paediatric Immunology and Haematopoietic Stem Cell Transplantation, Great North Children's Hospital, Clinical Resource Building, Floor 4, Block 2, Newcastle upon Tyne, UK. Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.Paediatric Immunology and Haematopoietic Stem Cell Transplantation, Great North Children's Hospital, Clinical Resource Building, Floor 4, Block 2, Newcastle upon Tyne, UK. a.r.gennery@ncl.ac.uk. Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK. a.r.gennery@ncl.ac.uk.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

32648006

Citation

Slatter, Mary A., and Andrew R. Gennery. "Update On DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency." Current Allergy and Asthma Reports, vol. 20, no. 10, 2020, p. 57.
Slatter MA, Gennery AR. Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency. Curr Allergy Asthma Rep. 2020;20(10):57.
Slatter, M. A., & Gennery, A. R. (2020). Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency. Current Allergy and Asthma Reports, 20(10), 57. https://doi.org/10.1007/s11882-020-00955-z
Slatter MA, Gennery AR. Update On DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency. Curr Allergy Asthma Rep. 2020 Jul 9;20(10):57. PubMed PMID: 32648006.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency. AU - Slatter,Mary A, AU - Gennery,Andrew R, Y1 - 2020/07/09/ PY - 2020/7/11/entrez PY - 2020/7/11/pubmed PY - 2020/7/11/medline KW - Ataxia-telangiectasia KW - Cernunnos-XLF KW - DNA ligase 4 KW - DNA-PK KW - Nijmegen breakage syndrome KW - Radiosensitivity SP - 57 EP - 57 JF - Current allergy and asthma reports JO - Curr Allergy Asthma Rep VL - 20 IS - 10 N2 - PURPOSE OF REVIEW: The most serious DNA damage, DNA double strand breaks (DNA-dsb), leads to mutagenesis, carcinogenesis or apoptosis if left unrepaired. Non-homologous end joining (NHEJ) is the principle repair pathway employed by mammalian cells to repair DNA-dsb. Several proteins are involved in this pathway, defects in which can lead to human disease. This review updates on the most recent information available for the specific diseases associated with the pathway. RECENT FINDINGS: A new member of the NHEJ pathway, PAXX, has been identified, although no human disease has been associated with it. The clinical phenotypes of Artemis, DNA ligase 4, Cernunnos-XLF and DNA-PKcs deficiency have been extended. The role of haematopoietic stem cell transplantation, following reduced intensity conditioning chemotherapy, for many of these diseases is being advanced. In the era of newborn screening, urgent genetic diagnosis is necessary to correctly target appropriate treatment for patients with DNA-dsb repair disorders. SN - 1534-6315 UR - https://www.unboundmedicine.com/medline/citation/32648006/Update_on_DNA-Double_Strand_Break_Repair_Defects_in_Combined_Primary_Immunodeficiency L2 - https://dx.doi.org/10.1007/s11882-020-00955-z DB - PRIME DP - Unbound Medicine ER -
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