prikaz prve stranice dokumenta Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity
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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. Više autora...

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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, br. 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, br. 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, i sur.. Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity. Journal of Experimental Medicine [Internet]. 01.04.2024. [pristupljeno 02.02.2025.];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, br. 4, Travanj 2024. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:640791. [Citirano: 02.02.2025.]

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Naslov (engleski)Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity
AutorYaoyuan Zhang
AutorRhiannon Morris
AutorGrant J. Brown
AutorAyla May D. Lorenzo
AutorXiangpeng Meng
AutorNadia J. Kershaw
AutorPamudika Kiridena
AutorGaétan Burgio
AutorSimon Gross
AutorJean Y. Cappello
AutorQian Shen
AutorHao Wang
AutorCynthia Turnbull
AutorTom Lea-Henry
AutorMaurice Stanley
AutorZhijia Yu
AutorFiona D. Ballard
AutorAaron Chuah
AutorJames C. Lee
AutorAnn-Maree Hatch
AutorAnselm Enders
AutorSeth L. Masters
AutorAlexander P. Headley
AutorPeter Trnka
AutorDominic Mallon
AutorJeffery T. Fletcher
AutorGiles D. Walters
AutorMario Šestan
AutorMarija Jelušić
AutorMatthew C. Cook
AutorVicki Athanasopoulos
AutorDavid A. Fulcher
AutorJeffrey J. Babon
AutorCarola G. Vinuesa
AutorJulia I. Ellyard
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
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 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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaJournal of Experimental Medicine
Brojčani podacivol. 221, br. 4, e20221080
p-ISSN0022-1007
e-ISSN1540-9538
DOIhttps://doi.org/10.1084/jem.20221080
URN:NBNurn:nbn:hr:105:640791
Datum objave publikacije2024-04-01
URL dokumentahttps://rupress.org/jem/article/221/4/e20221080/276586/Rare-SH2B3-coding-variants-in-lupus-patients
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje-Nekomercijalno-Dijeli pod istim uvjetima 4.0 međunarodna (CC BY-NC-SA 4.0)
Datum i vrijeme pohrane2024-11-11 09:12:36