Data Availability
The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.
References
Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, et al. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol. 2009;124:1152-60.e12.
Revy P, Kannengiesser C, Fischer A. Somatic genetic rescue in Mendelian haematopoietic diseases. Nat Rev Genet. 2019;20:582–98.
Hou Y, Gratz HP, Ureña-Bailén G, Gratz PG, Schilbach-Stückle K, Renno T, et al. Somatic reversion of a novel IL2RG mutation resulting in atypical X-linked combined immunodeficiency. Genes (Basel). 2021;13(1):35.
Lisco A, Hsu AP, Dimitrova D, Proctor DM, Mace EM, Ye P, et al. Treatment of relapsing HPV diseases by restored function of natural killer cells. N Engl J Med. 2021;385:921–9.
Miyazawa H, Wada T. Reversion mosaicism in primary immunodeficiency diseases. Front Immunol. 2021;12: 783022.
Acknowledgements
We would like to thank our patients for participating in this study.
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Data collection and data analysis was performed by all authors. The first draft of the manuscript was written by Patricia dela Cruz. All authors read and approved the final manuscript.
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Cruz, P.d., Rylaarsdam, S., Torgerson, T.R. et al. Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings. J Clin Immunol 43, 1747–1750 (2023). https://doi.org/10.1007/s10875-023-01557-w
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DOI: https://doi.org/10.1007/s10875-023-01557-w