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

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Data availability

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

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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.

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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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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.

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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 (2021). https://doi.org/10.1007/s10875-020-00963-8

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