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Current Allergy and Asthma Reports

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Open Access 01-10-2020 | Immunodeficiency | Immune Deficiency and Dysregulation (C Kuo, Section Editor)

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

Authors: Mary A. Slatter, Andrew R. Gennery

Published in: Current Allergy and Asthma Reports | Issue 10/2020

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.

Summary

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

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Title: Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency
Authors: Mary A. Slatter
Andrew R. Gennery
Publication date: 01-10-2020
Publisher: Springer US
Keyword: Immunodeficiency
Published in: Current Allergy and Asthma Reports / Issue 10/2020
Print ISSN: 1529-7322
Electronic ISSN: 1534-6315
DOI: https://doi.org/10.1007/s11882-020-00955-z

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

Purpose of Review

Recent Findings

Summary

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Purpose of Review

Recent Findings

Summary

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