ArticleBlood2016
XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.
Article in Blood, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 37 citations in OpenAlex.
- Comparative analysis of the organization and complexity of immunoglobulin light chain loci in equids.Journal of animal science · 2026Article
- Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity.Frontiers in genetics · 2026Article
- Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case.BMC immunology · 2025Review
- B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.The journal of allergy and clinical immunology. Global · 2025Article
- Age-Related Dynamics and Spectral Characteristics of the TCRβ Repertoire in Healthy Children: Implications for Immune Aging.Aging cell · 2025Article
- Cernunnos defect in an Iranian patient with TMolecular genetics & genomic medicine · 2022Review
- T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects.Journal of clinical immunology · 2022Article
- NovelFrontiers in pediatrics · 2022Article
- NGS-Based B-Cell Receptor Repertoire AnalysisRepertoire analyses in the Context of Inborn Errors of Immunity.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy.Journal of clinical immunology · 2021Article
- Loss of H3K36 Methyltransferase SETD2 Impairs V(D)J Recombination during Lymphoid Development.iScience · 2020Article
- Cernunnos/Xlf Deficiency Results in Suboptimal V(D)J Recombination and Impaired Lymphoid Development in Mice.Frontiers in immunology · 2019Article
- Genetic mechanisms of target antigen loss in CAR19 therapy of acute lymphoblastic leukemia.Nature medicine · 2018Article
- XLF and APLF bind Ku80 at two remote sites to ensure DNA repair by non-homologous end joining.Nature structural & molecular biology · 2018Article
- The chimeric TAC receptor co-opts the T cell receptor yielding robust anti-tumor activity without toxicity.Nature communications · 2018Article
- B-cell receptor repertoire sequencing in patients with primary immunodeficiency: a review.Immunology · 2018Review
- High-Throughput Analysis of DNA Break-Induced Chromosome Rearrangements by Amplicon Sequencing.Methods in enzymology · 2018Article
- Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-senseFrontiers in immunology · 2018Article
- XLF/Cernunnos: An important but puzzling participant in the nonhomologous end joining DNA repair pathway.DNA repair · 2017Review
- Recent advances in the study of immunodeficiency and DNA damage response.International journal of hematology · 2017Review
Corrections and comments
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Authors and funding
19 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Repair of DNA double-strand breaks (DSBs) by the nonhomologous end-joining pathway (NHEJ) is important not only for repair of spontaneous breaks but also for breaks induced in developing lymphocytes during V(D)J (variable [V], diversity [D], and joining [J] genes) recombination of their antigen receptor loci to create a diverse repertoire. Mutations in the NHEJ factor XLF result in extreme sensitivity for ionizing radiation, microcephaly, and growth retardation comparable to mutations in LIG4 and XRCC4, which together form the NHEJ ligation complex. However, the effect on the immune system is variable (mild to severe immunodeficiency) and less prominent than that seen in deficiencies of NHEJ factors ARTEMIS and DNA-dependent protein kinase catalytic subunit, with defects in the hairpin opening step, which is crucial and unique for V(D)J recombination. Therefore, we aimed to study the role of XLF during V(D)J recombination. We obtained clinical data from 9 XLF-deficient patients and performed immune phenotyping and antigen receptor repertoire analysis of immunoglobulin (Ig) and T-cell receptor (TR) rearrangements, using next-generation sequencing in 6 patients. The results were compared with XRCC4 and LIG4 deficiency. Both Ig and TR rearrangements showed a significant decrease in the number of nontemplated (N) nucleotides inserted by terminal deoxynucleotidyl transferase, which resulted in a decrease of 2 to 3 amino acids in the CDR3. Such a reduction in the number of N-nucleotides has a great effect on the junctional diversity, and thereby on the total diversity of the Ig and TR repertoire. This shows that XLF has an important role during V(D)J recombination in creating diversity of the repertoire by stimulating N-nucleotide insertion.
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