prikaz prve stranice dokumenta Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity
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Scientific paper - Original scientific paper
Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity
Journal of Experimental Medicine, 221 (2024), 4; e20221080. https://doi.org/10.1084/jem.20221080
Zhang, Yaoyuan; Morris, Rhiannon; Brown, Grant J.; Lorenzo, Ayla May D.; Meng, Xiangpeng; Kershaw, Nadia J.; Kiridena, Pamudika; Burgio, Gaétan; Gross, Simon; Cappello, Jean Y.; Shen, Qian; Wang, Hao; Turnbull, Cynthia; Lea-Henry, Tom; Stanley, Maurice; Yu, Zhijia; Ballard, Fiona D.; Chuah, Aaron; Lee, James C.; Hatch, Ann-Maree; Enders, Anselm; Masters, Seth L.; Headley, Alexander P.; Trnka, Peter; Mallon, Dominic; Fletcher, Jeffery T.; Walters, Giles D.; Šestan, Mario; Jelušić, Marija; Cook, Matthew C.; Athanasopoulos, Vicki; Fulcher, David A.; Babon, Jeffrey J.; Vinuesa, Carola G.; Ellyard, Julia I. More authors...

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Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

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Zhang, Y., Morris, R., Brown, G. J., Lorenzo, A. M. D., Meng, X., Kershaw, N. J. ... Ellyard, J. I. (2024). Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity. Journal of Experimental Medicine, 221. (4). doi: 10.1084/jem.20221080

Zhang, Yaoyuan, et al. "Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity." Journal of Experimental Medicine, vol. 221, no. 4, 2024. https://doi.org/10.1084/jem.20221080

Zhang, Yaoyuan, Rhiannon Morris, Grant J. Brown, Ayla May D. Lorenzo, Xiangpeng Meng, Nadia J. Kershaw, Pamudika Kiridena, et al. "Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity." Journal of Experimental Medicine 221, no. 4 (2024). https://doi.org/10.1084/jem.20221080

Zhang, Y., et al. (2024) 'Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity', Journal of Experimental Medicine, 221(4). doi: 10.1084/jem.20221080

Zhang Y, Morris R, Brown GJ, Lorenzo AMD, Meng X, Kershaw NJ, and sur.. Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity. Journal of Experimental Medicine [Internet]. 2024 April 01 [cited 2025 March 13];221(4). doi: 10.1084/jem.20221080

Y. Zhang, et al., "Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity", Journal of Experimental Medicine, vol. 221, no. 4, April 2024. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:640791. [Accessed: 13 March 2025]

Metadata
Title (english)Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity
AuthorYaoyuan Zhang
AuthorRhiannon Morris
AuthorGrant J. Brown
AuthorAyla May D. Lorenzo
AuthorXiangpeng Meng
AuthorNadia J. Kershaw
AuthorPamudika Kiridena
AuthorGaétan Burgio
AuthorSimon Gross
AuthorJean Y. Cappello
AuthorQian Shen
AuthorHao Wang
AuthorCynthia Turnbull
AuthorTom Lea-Henry
AuthorMaurice Stanley
AuthorZhijia Yu
AuthorFiona D. Ballard
AuthorAaron Chuah
AuthorJames C. Lee
AuthorAnn-Maree Hatch
AuthorAnselm Enders
AuthorSeth L. Masters
AuthorAlexander P. Headley
AuthorPeter Trnka
AuthorDominic Mallon
AuthorJeffery T. Fletcher
AuthorGiles D. Walters
AuthorMario Šestan
AuthorMarija Jelušić
AuthorMatthew C. Cook
AuthorVicki Athanasopoulos
AuthorDavid A. Fulcher
AuthorJeffrey J. Babon
AuthorCarola G. Vinuesa
AuthorJulia I. Ellyard
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a clear genetic component. While most SLE patients carry rare gene variants in lupus risk genes, little is known about their contribution to disease pathogenesis. Amongst them, SH2B3—a negative regulator of cytokine and growth factor receptor signaling—harbors rare coding variants in over 5% of SLE patients. Here, we show that unlike the variant found exclusively in healthy controls, SH2B3 rare variants found in lupus... More patients are predominantly hypomorphic alleles, failing to suppress IFNGR signaling via JAK2-STAT1. The generation of two mouse lines carrying patients’ variants revealed that SH2B3 is important in limiting the number of immature and transitional B cells. Furthermore, hypomorphic SH2B3 was shown to impair the negative selection of immature/transitional self-reactive B cells and accelerate autoimmunity in sensitized mice, at least in part due to increased IL-4R signaling and BAFF-R expression. This work identifies a previously unappreciated role for SH2B3 in human B cell tolerance and lupus risk. Less
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleJournal of Experimental Medicine
Numberingvol. 221, no. 4, e20221080
p-ISSN0022-1007
e-ISSN1540-9538
DOIhttps://doi.org/10.1084/jem.20221080
URN:NBNurn:nbn:hr:105:640791
Publication2024-04-01
Document URLhttps://rupress.org/jem/article/221/4/e20221080/276586/Rare-SH2B3-coding-variants-in-lupus-patients
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) icon
Created on2024-11-11 09:12:36
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