Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency.
Ataxia-telangiectasia
Cernunnos-XLF
DNA ligase 4
DNA-PK
Nijmegen breakage syndrome
Radiosensitivity
Journal
Current allergy and asthma reports
ISSN: 1534-6315
Titre abrégé: Curr Allergy Asthma Rep
Pays: United States
ID NLM: 101096440
Informations de publication
Date de publication:
09 07 2020
09 07 2020
Historique:
entrez:
11
7
2020
pubmed:
11
7
2020
medline:
22
5
2021
Statut:
epublish
Résumé
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. 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.
Identifiants
pubmed: 32648006
doi: 10.1007/s11882-020-00955-z
pii: 10.1007/s11882-020-00955-z
pmc: PMC7347510
doi:
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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