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No datasets were generated or analysed during the current study.
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Acknowledgements
The authors thank the patient and his parents for participating in this study. We thank all of our colleagues in the Department of Pediatrics at Nihon University Itabashi Hospital who have been involved in the patient’s care and research. We also thank Dr. Kay Tanita and Ms. Maki Yamazaki at TMDU, Dr. Junichi Hosokawa and Dr. Osamu Ohara at Kazusa DNA Research Institute, Dr. Yuki Sakai, Dr. Yu Hashimoto and Ms. Yukiko Konakai at NDMC for tremendous technical assistance. We also deeply thank Dr. Yoji Uejima for the clinical in-formation of the maternal uncle of the patient.
Funding
This work was supported by MEXT/JSPS KAKENHI (Grant Number: 21K07791) to KM, (Grant Number: 22K07887) to HK, (Grant Number:23F1023) to KI and (Grant Number:23DA0801) to KI. This research was also supported by AMED under Grant Number JP 23ek0109623.
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ST and KM performed the genetic analysis and wrote the manuscript. SS provided clinical information. HK and KI supervised the study and edited the manuscript. All authors read and approved the final manuscript.
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This study was conducted in accordance with the recommendations of the Declaration of Helsinki and was approved by the Ethics Committee of National Defense Medical College (No.4738).
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The authors declare no competing interests.
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Tateishi, S., Shimizu, S., Moriya, K. et al. A deep intronic BTK variant underlies X-linked agammaglobulinemia. J Clin Immunol 44, 89 (2024). https://doi.org/10.1007/s10875-024-01694-w
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DOI: https://doi.org/10.1007/s10875-024-01694-w