B-cell immunodeficiency associated with polynucleotide kinase 3′-phosphatase (PNKP) deficiency

B-cell immunodeficiency associated with polynucleotide kinase 3′-phosphatase (PNKP) deficiency

Background: DNA repair is crucial for maintaining genomic integrity and plays a significant role in the immune system. Defects in DNA repair pathways are often associated with immunodeficiency, including B-cell defects, which are consistent with the need for DNA repair during V(D)J recombination, cl...

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Main Authors: Sanami Takada, MD, PhD, Tsubasa Okano, MD, PhD, Kay Tanita, MD, PhD, Kaima Tsukada, PhD, Masato Watanabe, MD, Atsushi Hijikata, PhD, Takuya Naruto, PhD, Tzu-Wen Yeh, PhD, Saki Kasuga, MD, PhD, Sadao Tokimasa, MD, PhD, Mariko Taniguchi-Ikeda, MD, PhD, Reina Ogata, MD, Azusa Ikeda, MD, PhD, Tomohide Goto, MD, PhD, Hitoshi Osaka, MD, PhD, Masatoshi Takagi, MD, PhD, Kohsuke Imai, MD, PhD, Tomohiro Morio, MD, PhD, Mirjam van der Burg, PhD, Mikio Shimada, PhD, Hirokazu Kanegane, MD, PhD
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Journal of Allergy and Clinical Immunology: Global
Subjects:
PNKP
inborn errors of immunity
DNA damage repair
hypogammaglobulinemia
class-switch recombination
somatic hypermutation
Online Access:http://www.sciencedirect.com/science/article/pii/S2772829325001158
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