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Acknowledgments
We thank the patient, volunteers, and their guardians for participating in this work, and the National Supercomputer Center in Guangzhou at Sun Yat-Sen University for providing HPC resources on Tianhe-2. We also thank the society members of the Pediatric Allergy, Immunology & Rheumatology Branch, Asia Pacific Association of Medicine and Bio-Immunology (PAIRB-APAMBI) for their expert opinions on the diagnosis of the child’s skin conditions.
Funding
This work was supported by grants from the Natural Science Foundation of China (NSFC) to Yuxia Zhang (31770978, 91742109); the Guangzhou Women and Children’s Medical Center Fund to Yuxia Zhang (5001-3001032), Ming Liu (5001-3001061), Bing Huang (5001-3001068), and Bingtai Lu (5001-3001060); the China Postdoctoral Science Foundation funded project to Bing Huang (2017 M622656); and the National Health and Medical Research Council of Australia grants (1037321, 1105209, 1143976, 1080321, 1150425) to Andrew Lew.
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Ping Zeng, Diyuan Yang, Sida Yang, Lanlan Geng, and Huasong Zeng provided patient care and clinical assessment. Hanquan Liang performed bioinformatic analysis. Ming Liu, Bingtai Lu, Bing Huang, and Yanhui Xu performed the experiments. Yuxia Zhang supervised the study and wrote the manuscript, with significant input from Ming Liu, Seth L Masters, and Andrew M Lew.
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Liu, M., Lu, B., Zeng, P. et al. Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation. J Clin Immunol 40, 647–652 (2020). https://doi.org/10.1007/s10875-020-00771-0
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DOI: https://doi.org/10.1007/s10875-020-00771-0