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Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency

Lookup NU author(s): Professor Mary Slatter, Professor Andrew GenneryORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

Purpose of ReviewThe 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 FindingsA 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.SummaryIn the era of newborn screening, urgent genetic diagnosis is necessary to correctly target appropriate treatment for patients with DNA-dsb repair disorders.

Publication metadata

Author(s): Slatter MA, Gennery AR

Publication type: Article

Publication status: Published

Journal: Current Allergy and Asthma Reports

Year: 2020

Volume: 20

Online publication date: 09/07/2020

Acceptance date: 02/04/2020

Date deposited: 09/12/2020

ISSN (print): 1529-7322

ISSN (electronic): 1534-6315

Publisher: Springer

URL: https://doi.org/10.1007/s11882-020-00955-z

DOI: 10.1007/s11882-020-00955-z

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