ArticleThe Journal of allergy and clinical immunology2016
A novel mutation in the POLE2 gene causing combined immunodeficiency.
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Article in The Journal of allergy and clinical immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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30citing papers in PubMed
–field-weighted citation impact
What it found
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Who cites it
30 citing papers in PubMed.
- Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1.The Journal of allergy and clinical immunology · 2020Trial
- Pan-cancer multi-omics analysis reveals upregulation of the POLE2 subunit of DNA polymerase epsilon and its associations with patient survival and cellular pathways beyond DNA replication.NAR genomics and bioinformatics · 2026Article
- Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy.Frontiers in immunology · 2026Review
- Human genetic influences on early B cell development.Journal of human immunity · 2025Review
- Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients.The Journal of experimental medicine · 2025Article
- RNA Sequencing and Bioinformatics Analysis Reveals the Downregulation of DNA Replication Genes by Morindone in Colorectal Cancer Cells.Applied biochemistry and biotechnology · 2024Article
- Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.Journal of clinical immunology · 2023Article
- POLE2 Regulates Apoptosis of Oral Squamous Cell Carcinoma Cells through the PI3K/AKT Signaling Pathway.Current medical science · 2023Article
- Silencing POLE2 promotes apoptosis and inhibits proliferation of oral squamous cell carcinomas by inhibiting PI3K/AKT signaling pathway.Medical oncology (Northwood, London, England) · 2023Article
- Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity.Journal of clinical immunology · 2023Article
- Infections in DNA Repair Defects.Pathogens (Basel, Switzerland) · 2023Review
- The non-catalytic role of DNA polymerase epsilon in replication initiation in human cells.Nature communications · 2022Article
- Disrupted control of origin activation compromises genome integrity upon destabilization of Polε and dysfunction of the TRP53-CDKN1A/P21 axis.Cell reports · 2022Article
- Mycobacterial diseases in patients with inborn errors of immunity.Current opinion in immunology · 2021Review
- MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.European journal of human genetics : EJHG · 2021Article
- Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.International journal of molecular sciences · 2021Review
- Human NK cell deficiency as a result of biallelic mutations in MCM10.The Journal of clinical investigation · 2020Article
- POLE2 knockdown reduce tumorigenesis in esophageal squamous cells.Cancer cell international · 2020Article
- Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.The Journal of clinical investigation · 2019Article
- Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.American journal of human genetics · 2019Article
Corrections and comments
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Authors and funding
16 authors.
Francesco FrugoniDivision of Immunology, Boston Children's Hospital, Boston, Mass.
Kerry DobbsDivision of Immunology, Boston Children's Hospital, Boston, Mass.
Kerstin FelgentreffDivision of Immunology, Boston Children's Hospital, Boston, Mass.
Hasan AldhekriDepartment of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Bandar K Al SaudDepartment of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Rand ArnaoutDepartment of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Afshan Ashraf AliDepartment of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Avinash AbhyankarNew York Genome Center, New York, NY.
Fayhan AlroqiDivision of Immunology, Boston Children's Hospital, Boston, Mass.
Silvia GilianiAngelo Nocivelli Institute of Molecular Medicine, University of Brescia, Brescia, Italy.
Mayra Martinez OjedaDepartment of Genetics, Boston Children's Hospital, Boston, Mass.
Erdyni TsitsikovDepartment of Laboratory Medicine, Boston Children's Hospital, Boston, Mass.
Sung-Yun PaiDivision of Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, Mass.
Jean Laurent CasanovaSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, University Paris Descartes, Imagine Institute, Paris, France; Howard Hughes Medical Institute, New York, NY; Pediatric Hematology-Immunology Unit, Necker Hospital, Paris, France.
Luigi D NotarangeloDivision of Immunology, Boston Children's Hospital, Boston, Mass; Harvard Stem Cell Institute, Harvard University, Boston, Mass. Electronic address: luigi.notarangelo@childrens.harvard.edu.
John P ManisDepartment of Laboratory Medicine, Boston Children's Hospital, Boston, Mass; Department of Laboratory Medicine, Joint Program in Transfusion Medicine, Boston Children's Hospital, Boston, Mass; Department of Pathology, Harvard Medical School, Boston, Mass. Electronic address: manis@enders.tch.harvard.edu.
Funding
Modeling and correcting human SCID using patient-derived iPS cellsR01AI100887 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI MANIS, JOHN P · 2012 to 2020
$4.5MNIAID NIH HHS 5R01AI100887NIAID NIH HHS R01 AI100887NIAID NIH HHS R21AI87355
Abstract
PubMed holds no abstract for this paper.
Indexed as
MutationChild, PreschoolDNA Mutational AnalysisDNA Polymerase IIFatal OutcomeHumansLymphocytesMaleSevere Combined ImmunodeficiencyDNA Polymerase II
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