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

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

    Foilsithe / Cruthaithe 2025-08-01

    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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