日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution

一项针对A20单倍体不足的多中心国际队列研究揭示了新的遗传结构和表型演变

He, Tingyan; Wang, Jun; Carpio Tumba, Manuel; Wang, Shihao; Luo, Youyou; Chen, Jie; Li, Guomin; Shu, Zhou; Zhang, Song; Stone, Deborah L; Huang, Yanyan; Lv, Qianying; Xiong, Wen; Wang, Jinbo; Yu, Zhongxun; Cuff, Charlotte Vera; Kairis, Elizabeth; Kethri, Akuti; Towheed, Atif; Goyette, Kyr; Karri, Urekha; Wang, Jiebiao; Liu, Chen; Romeo, Tina; Alsina, Laia; Rosenberg, Daniel L; Clemente, Daniel; López-Robledillo, Juan Carlos; Rong, Zanhua; Zhao, Xue; Jiang, Lijun; Aldave-Becerra, Juan Carlos; Muñoz-Urribarri, Ana Beatriz; Oommen, Prasad Thomas; Campbell-Stokes, Priscilla; Zhu, Meifang; Liu, Peng; Guo, Li; Xu, Yiping; Yu, Zihua; Tong, Huajuan; Qiu, Xiaojian; Zhang, Yazhi; Chen, Hongbo; Zhang, Changming; Ou, Junbin; Liu, Congcong; Liu, Jinxiang; Shen, Yunyan; Cao, Jianshe; Zhang, Xinping; Yang, Kangkang; Bao, Ying; Li, Zhijuan; Cao, Jie; Duan, Yuanhui; Liu, Fujuan; Shi, Buyun; Sun, Min; Ma, Li; Chen, Yongxing; Yang, Wei; Han, Xu; Ma, Shuangyue; Luo, Jie; Gu, Weiyue; Yu, Guoliang; Shi, Weina; Zhao, Ruiqin; Sun, Lei; Li, Wenhui; An, Yunfei; Tang, Xuemei; Zhao, Xiaodong; Han, Tongxin; Ma, Jing; Li, Yan; Piao, Yurong; Sun, Fei; Zhang, Dongfeng; Yin, Meina; Zheng, Shaoling; Li, Tianwang; Niu, Huizhong; Lin, Li; Mei, Shiyue; Zhou, Fang; Yang, Sirui; Li, Danlu; Yan, Mei; Zeng, Huasong; Zeng, Ping; Zheng, Wenjie; Li, Xiaozhong; Li, Xiaolin; Liu, Yuling; Huang, Lijuan; Yu, Haiguo; Fan, Zhidan; Shen, Min; Lu, Meiping; Fang, Zhihao; Rimland, Casey Allison; Song, Hongmei; Peterson, Lance W; Yousuf Al-Nesf, Maryam Ali; Aqel, Sami; Mudawi, Dalal Sideeg; Raje, Nikita; Slowik, Voytek; Harris, Julia G; Snyder, Brenda; Scheffler-Mendoza, Selma; Yamazaki-Nakashimada, Marco Antonio; Cooper, Megan A; Lau, Yu Lung; Cetin Gedik, Kader; Wang, Wenjie; Ying, Wenjing; Hou, Jia; Zhou, Qinhua; Sun, Bijun; Sun, Jinqiao; Wang, Xiaochuan; Ombrello, Amanda K; Huang, Ying; Wu, Hai-Lin; Sun, Li; Mao, Huawei; Yu, Xiaomin; Liu, Zhihong; Aksentijevich, Ivona; Kastner, Daniel L; Schwartz, Daniella M; Yang, Jun; Zhou, Qing

Type I Interferon Signature is Associated With Lung Disease, Drug-Associated Immune Reactions, and Genetic Variation in Interferon-Linked Pathways in Still Disease

I型干扰素特征与肺部疾病、药物相关免疫反应以及斯蒂尔病中干扰素相关通路基因变异有关。

Marques, Mariana Correia; Deng, Zuoming; Chowdhury, Navid; Schmitz, Elizabeth; Platukus, Alana; Rosenbaum, Emily D; Lu, Shajia; Brooks, Stephen; Gadina, Massimo; Kim, Hanna; Lake, Carol; Bergeron, Ly-Lan; Millwood, Michelle; Ombrello, Michael J

Examination of HLA-DRB1*15-linked Candidate Antigens in Still Disease With and Without Lung Disease and Drug-Associated Immune Reactions

对伴有和不伴有肺部疾病的斯蒂尔病患者以及药物相关免疫反应中HLA-DRB1*15相关候选抗原的检测

Kobrin, Dale M; Brown, D Garrett; Burbelo, Peter D; Workman, Lisa; Rosenbaum, Emily D; Correia Marques, Mariana; Lake, Carol; Millwood, Michelle; Lawrence, Monica G; Deng, Zuoming; Das, Sanchita; Ombrello, Michael J

Clinical Features and Outcome Measures Across Still Disease (Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still Disease) Cohorts Worldwide: A Systematic Literature Review

全球斯蒂尔病(系统性幼年特发性关节炎和成人斯蒂尔病)队列的临床特征和结局指标:系统性文献综述

Balay-Dustrude, Erin; Marques, Mariana Correia; Appenzeller, Simone; Bracaglia, Claudia; Dedeoglu, Fatma; Eloseily, Esraa; Jimenez, Penelope Martinez; Ombrello, Michael J; Onel, Karen; Twilt, Marinka; Zhao, Xurong; Minoia, Francesca; Shenoi, Susan

Features Associated with Response to Tonsillectomy in Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome in Children

儿童周期性发热、口腔溃疡、咽炎和颈部淋巴结炎综合征扁桃体切除术后疗效的相关特征

Manthiram, Kalpana; Ortega-Villa, Ana M; Lapidus, Sivia; Bowes, Mary; Romeo, Tina; Garguilo, Kathryn; Failla, Laura; Srinivasalu, Hemalatha; Mudd, Pamela; Ombrello, Amanda; Barron, Karyl; Kastner, Daniel L; Edwards, Kathryn M

Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2

两名互不相关的患者因DNASE2基因近端内含子剪接位点变异而发生I型干扰素介导的自身炎症

Schnappauf, Oskar; Wang, Hongying; Zhou, Qing; Burlakov, Vasily; Kozlova, Anna; Beck, David B; Moura, Natalia Sampaio; Deuitch, Natalie T; Tsai, Wanxia Li; Gadina, Massimo; Hoffmann, Patrycja; Ombrello, Amanda K; Zakharova, Victoria; Kieva, Amina; Raikina, Elena; Ricucci, Federica; Kastner, Daniel L; Shcherbina, Anna; Aksentijevich, Ivona

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

双等位基因人类SHARPIN功能丧失会诱发自身炎症和免疫缺陷

Hirotsugu Oda # ,Kalpana Manthiram #,Pallavi Pimpale Chavan,Eva Rieser,Önay Veli,Öykü Kaya,Charles Rauch,Shuichiro Nakabo,Hye Sun Kuehn,Mariël Swart,Yanli Wang,Nisa Ilgim Çelik,Anne Molitor,Vahid Ziaee ,Nasim Movahedi ,Mohammad Shahrooei,Nima Parvaneh,Nasrin Alipour-Olyei,Raphael Carapito ,Qin Xu,Silvia Preite,David B Beck ,Jae Jin Chae,Michele Nehrebecky,Amanda K Ombrello,Patrycja Hoffmann,Tina Romeo,Natalie T Deuitch,Brynja Matthíasardóttir,James Mullikin,Hirsh Komarow,Jennifer Stoddard,Julie Niemela,Kerry Dobbs,Colin L Sweeney,Holly Anderton,Kate E Lawlor ,Hiroyuki Yoshitomi ,Dan Yang,Manfred Boehm,Jeremy Davis,Pamela Mudd,Davide Randazzo,Wanxia Li Tsai,Massimo Gadina,Mariana J Kaplan,Junya Toguchida,Christian T Mayer,Sergio D Rosenzweig,Luigi D Notarangelo,Kazuhiro Iwai,John Silke,Pamela L Schwartzberg,Bertrand Boisson ,Jean-Laurent Casanova ,Seiamak Bahram ,Anand Prahalad Rao,Nieves Peltzer ,Henning Walczak ,Najoua Lalaoui ,Ivona Aksentijevich,Daniel L Kastner

Venous and arterial thrombosis in patients with VEXAS syndrome

VEXAS综合征患者的静脉和动脉血栓形成

Kusne, Yael; Ghorbanzadeh, Atefeh; Dulau-Florea, Alina; Shalhoub, Ruba; Alcedo, Pedro E; Nghiem, Khanh; Ferrada, Marcela A; Hines, Alexander; Quinn, Kaitlin A; Panicker, Sumith R; Ombrello, Amanda K; Reichard, Kaaren; Darden, Ivana; Goodspeed, Wendy; Durrani, Jibran; Wilson, Lorena; Olteanu, Horatiu; Lasho, Terra; Kastner, Daniel L; Warrington, Kenneth J; Mangaonkar, Abhishek; Go, Ronald S; Braylan, Raul C; Beck, David B; Patnaik, Mrinal M; Young, Neal S; Calvo, Katherine R; Casanegra, Ana I; Grayson, Peter C; Koster, Matthew J; Wu, Colin O; Kanthi, Yogendra; Patel, Bhavisha A; Houghton, Damon E; Groarke, Emma M

Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne

阻断化脓性关节炎伴坏疽性脓皮病和痤疮综合征中 IFN-γ 依赖性反馈回路

Lee, Wonyong; Stone, Deborah L; Hoffmann, Patrycja; Rosenzweig, Sofia; Tsai, Wanxia Li; Gadina, Massimo; Romeo, Tina; Lee, Chyi-Chia Richard; Randazzo, Davide; Pimpale Chavan, Pallavi; Manthiram, Kalpana; Canna, Scott; Park, Yong Hwan; Ombrello, Amanda K; Aksentijevich, Ivona; Kastner, Daniel L; Chae, Jae Jin

Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis

系统性幼年特发性关节炎中噬血细胞性淋巴组织细胞增生症基因罕见变异的富集

Correia Marques, Mariana; Rubin, Danielle; Shuldiner, Emily G; Datta, Mallika; Schmitz, Elizabeth; Gutierrez Cruz, Gustavo; Patt, Andrew; Bennett, Elizabeth; Grom, Alexei; Foell, Dirk; Gattorno, Marco; Bohnsack, John; Yeung, Rae S M; Prahalad, Sampath; Mellins, Elizabeth; Anton, Jordi; Len, Claudio A; Oliveira, Sheila; Woo, Patricia; Ozen, Seza; Deng, Zuoming; Ombrello, Michael J