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Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency

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References

  1. Bogaert DJ, et al. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet. 2016;53:575–90. https://doi.org/10.1136/jmedgenet-2015-103690.

    Article  CAS  PubMed  Google Scholar 

  2. Sun SC. The non-canonical NF-kappaB pathway in immunity and inflammation. Nat Rev Immunol. 2017;17:545–58. https://doi.org/10.1038/nri.2017.52.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Liang C, Zhang M, Sun SC. beta-TrCP binding and processing of NF-kappaB2/p100 involve its phosphorylation at serines 866 and 870. Cell Signal. 2006;18:1309–17. https://doi.org/10.1016/j.cellsig.2005.10.011.

    Article  CAS  PubMed  Google Scholar 

  4. Klemann C, et al. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2. Front Immunol. 2019;10:297. https://doi.org/10.3389/fimmu.2019.00297.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Tucker E, et al. A novel mutation in the Nfkb2 gene generates an NF-kappa B2 “super repressor.” J Immunol. 2007;179:7514–22. https://doi.org/10.4049/jimmunol.179.11.7514.

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

We thank King’s College Hospital Charitable Trust (Clinical Immunology Research Fund 20154) and Viapath Analytics LLP (Immunology R&D) for funding this study. We thank Dr James Laffan for his help with collating the clinical history of the patients from Epsom & St Helier University Hospitals. We thank Dr Ugo Soffientini and the Institute of Hepatology – King’s College Hospital for their continuous support and availability in using their facilities. We are grateful to Mrs Dorota Parsons for her secretarial assistance.

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Author notes

  1. Kruthika Sundaram and Micol Ferro contributed equally to this work.

Authors and Affiliations

  1. Department of Immunological Medicine, King’s College London, King’s Health Partners, King’s College Hospital NHS Foundation Trust, School of Immunology and Microbial Sciences, Denmark Hill, London, SE5 9RS, UK

    Kruthika Sundaram, Micol Ferro & Mohammad A. A. Ibrahim

  2. Viapath, King’s College Hospital, Denmark Hill, London, SE5 9RS, UK

    Kruthika Sundaram & Micol Ferro

  3. Epsom & St Helier University Hospitals NHS Trust, Carshalton, SM5 1AA, UK

    Grant Hayman

Authors
  1. Kruthika Sundaram
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  2. Micol Ferro
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  3. Grant Hayman
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  4. Mohammad A. A. Ibrahim
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Consortia

Inborn Errors of Immunity Functional Diagnostics Consortium

  • Dorothea Grosse-Kreul
  • , Terrence Hunter
  • , Helene Martini
  • , Frances Smith
  • , Nisha Verma
  • , Ioasaf Karafotias
  • , Padmalal Gurugama
  •  & Barnaby Clark

Contributions

JG, ST, DG-K, IK, GH and MAAI handled clinical aspects of the study and generated clinical data. KS, MF and MAAI designed the research aspects of the study. KS, MF, TH, HM, FS, BC and MAAI generated and analysed research data. KS and MF prepared the figures and the table. KS, MF, ST, NV and MAAI wrote the manuscript. PG and MAAI created the multicolour flow cytometry panel for measuring Tfh frequencies. All authors edited the manuscript.

Corresponding author

Correspondence to Mohammad A. A. Ibrahim.

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None of the authors has any relevant conflict of interest to declare.

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Sundaram, K., Ferro, M., Inborn Errors of Immunity Functional Diagnostics Consortium. et al. Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency. J Clin Immunol 43, 1159–1164 (2023). https://doi.org/10.1007/s10875-023-01491-x

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  • DOI: https://doi.org/10.1007/s10875-023-01491-x

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