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

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


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


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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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.

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Correspondence to Melinda Erdős or László Maródi.

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

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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).

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