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Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain

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Fig. 1

Data availability

Data and materials used in this study are available on request.

References

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Acknowledgments

We thank Hal Hoffman and Lori Broderick for the helpful discussion.

Funding

This study was supported by grants from the Foundation for Children with Immunodeficiencies to Melinda Erdős and László Maródi and from the European Society for Immunodeficiencies to Melinda Erdős.

Author information

Authors and Affiliations

  1. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA

    Melinda Erdős, Jean-Laurent Casanova, Bertrand Boisson & László Maródi

  2. Primary Immunodeficiency Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary

    Melinda Erdős & László Maródi

  3. Department of Immunology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary

    Árpád Lányi

  4. Center for Pediatric MRI and CT, Heim Pál National Institute of Pediatrics, Budapest, Hungary

    György Balázs

  5. Imagine Institute, Paris University, Paris, France

    Jean-Laurent Casanova & Bertrand Boisson

  6. Howard Hughes Medical Institute, New York, NY, USA

    Jean-Laurent Casanova

  7. Pediatric Hematology-Immunology and Rheumatology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France

    Jean-Laurent Casanova

Authors
  1. Melinda Erdős
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  2. Árpád Lányi
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  3. György Balázs
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  4. Jean-Laurent Casanova
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  5. Bertrand Boisson
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  6. László Maródi
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Contributions

Melinda Erdős, Árpád Lányi, and György Balázs conducted the experiments. Melinda Erdős and Bertrand Boisson performed the WES bioinformatics and Sanger analysis. Melinda Erdős and György Balázs performed the clinical investigation of the patient. Melinda Erdős, László Maródi, and Jean-Laurent Casanova wrote the manuscript.

Corresponding authors

Correspondence to Melinda Erdős or László Maródi.

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Competing interests

The authors declare that they have no conflict of interest.

Ethical approval

This study was approved by the institutional ethics committee of the University School of Medicine, Debrecen, Hungary.

Consent statement

Parent signed an informed consent to conduct the study and for data publication.

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Erdős, M., Lányi, Á., Balázs, G. et al. Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain. J Clin Immunol 41, 817–819 (2021). https://doi.org/10.1007/s10875-020-00963-8

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  • DOI: https://doi.org/10.1007/s10875-020-00963-8

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