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References
Al-Muhsen S, Casanova JL. The genetic heterogeneity of Mendelian susceptibility to mycobacterial diseases. J Allergy Clin Immunol. 2008;122(6):1043–51.
Isnardi I, Ng YS, Menard L, Meyers G, Saadoun D, Srdanovic I, et al. Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones. Blood. 2010;115(24):5026–36.
Saadoun D, Terrier B, Bannock J, Vazquez T, Massad C, Kang I, et al. Expansion of autoreactive unresponsive CD21−/low B cells in Sjogren’s syndrome-associated lymphoproliferation. Arthritis Rheum. 2013;65(4):1085–96.
Lau D, Lan LY, Andrews SF, Henry C, Rojas KT, Neu KE, et al. Low CD21 expression defines a population of recent germinal center graduates primed for plasma cell differentiation. Sci Immunol. 2017;2(7):eaai8153.
Rao DA, Gurish MF, Marshall JL, Slowikowski K, Fonseka CY, Liu Y, et al. Pathologically expanded peripheral T helper cell subset drives B cells in rheumatoid arthritis. Nature. 2017;542(7639):110–4.
Caielli S, Veiga DT, Balasubramanian P, Athale S, Domic B, Murat E, et al. A CD4(+) T cell population expanded in lupus blood provides B cell help through interleukin-10 and succinate. Nat Med. 2019;25(1):75–81.
Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, et al. International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol. 2018;38(1):96–128.
Vaser R, Adusumalli S, Leng SN, Sikic M, Ng PC. SIFT missense predictions for genomes. Nat Protoc. 2016;11(1):1–9.
Rogge L, Barberis-Maino L, Biffi M, Passini N, Presky DH, Gubler U, et al. Selective expression of an interleukin-12 receptor component by human T helper 1 cells. J Exp Med. 1997;185(5):825–31.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, et al. Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89(6):381–402.
Dong C. TH17 cells in development: an updated view of their molecular identity and genetic programming. Nat Rev Immunol. 2008;8(5):337–48.
Lin AM, Rubin CJ, Khandpur R, Wang JY, Riblett M, Yalavarthi S, et al. Mast cells and neutrophils release IL-17 through extracellular trap formation in psoriasis. J Immunol. 2011;187(1):490–500.
Karthikeyan RS, Vareechon C, Prajna NV, Dharmalingam K, Pearlman E, Lalitha P. Interleukin 17 expression in peripheral blood neutrophils from fungal keratitis patients and healthy cohorts in southern India. J Infect Dis. 2015;211(1):130–4.
Ramirez-Alejo N, Blancas-Galicia L, Yamazaki-Nakashimada M, Garcia-Rodriguez SE, Rivas-Larrauri F, Paolo-Cienfuegos DP, et al. Molecular analysis for patients with IL-12 receptor beta1 deficiency. Clin Genet. 2014;86(2):161–6.
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