Evidence map›Paper›PMID 40687947›Full record

ArticleThe journal of allergy and clinical immunology. Global2025

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

Sanami Takada, Tsubasa Okano, Kay Tanita, Kaima Tsukada, Masato Watanabe, Atsushi Hijikata, Takuya Naruto, Tzu-Wen Yeh, Saki Kasuga, Sadao Tokimasa and 11 more

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Article in The journal of allergy and clinical immunology. Global, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

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No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

21 authors.

Sanami TakadaDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Tsubasa OkanoDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Kay TanitaDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Kaima TsukadaLaboratory for Zero-Carbon Energy, Institute of Integrated Research, Institute of Science Tokyo, Tokyo, Japan.
Masato WatanabeFaculty of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Atsushi HijikataSchool of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan.
Takuya NarutoDepartment of Lifetime Clinical Immunology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Tzu-Wen YehDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Saki KasugaDepartment of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
Sadao TokimasaDepartment of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
Mariko Taniguchi-IkedaDepartment of Clinical Genetics, Fujita Health University Hospital, Toyoake, Japan.
Reina OgataDepartment of Pediatrics, National Hospital Organization Kokura Medical Center, Fukuoka, Japan.
Azusa IkedaDepartment of Neurology, Kanagawa Children's Medical Center, Kanagawa, Japan.
Tomohide GotoDepartment of Neurology, Kanagawa Children's Medical Center, Kanagawa, Japan.
Hitoshi OsakaDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan.
Masatoshi TakagiDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Kohsuke ImaiDepartment of Pediatrics, National Defense Medical College, Tokorozawa, Japan.
Tomohiro MorioDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Mirjam van der BurgDepartment of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Mikio ShimadaLaboratory for Zero-Carbon Energy, Institute of Integrated Research, Institute of Science Tokyo, Tokyo, Japan.
Hirokazu KaneganeDepartment of Child Health and Development, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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, class switching, and somatic hypermutation during B-cell maturation. Polynucleotide kinase 3'-phosphatase (PNKP) plays a significant role in DNA repair. PNKP deficiency is characterized by neurologic developmental abnormalities; however, immunodeficiency has not yet been reported. Objective: We focused on a pair of PNKP-deficient siblings who presented with microcephaly, eye abnormalities, and hypogammaglobulinemia. We aimed to analyze the effect of PNKP deficiency on B-cell development. Methods: Whole-exome sequencing was performed to identify the genetic cause of hypogammaglobulinemia. DNA repair efficiency was analyzed using patient-derived fibroblasts. The immune phenotype and B-cell receptor repertoire were analyzed using the patient's peripheral blood, alongside other patients with PNKP deficiency without severe immunodeficiency. Results: Whole-exome sequencing revealed compound heterozygous Conclusion: Our case indicated that

Indexed as

class-switch recombinationDNA damage repairhypogammaglobulinemiainborn errors of immunityPNKPsomatic hypermutation

Identifiers

PMID40687947
PMCPMC12271857

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