科研队伍

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王晓川
博士,教授,博士生导师,主任医师,复旦大学医学遗传研究院兼职PI
地址:上海市闵行区万源路399号(复旦大学附属儿科医院)
电话:021-64931990
邮箱:xchwang@shmu.edu.cn

学术任职

复旦大学附属儿科医院临床免疫科主任;国家免疫规划专家咨询委员会委员;中华医学会儿科分会免疫学组副组长;中国医师协会儿科分会过敏学组组长; 中国医师协会儿科分会风湿免疫学组副组长;中国疫苗行业协会预防接种专委会副主任委员;中国医师协会变态反应分会常委;中国免疫学会临床免疫分会委员。

教育与工作经历

1986年于湖北医科大学医学学士,从事儿科临床工作。1996年上海医科大学(现复旦大学附属儿科医院)获博士学位,1997-1998年瑞士洛桑雀巢国际研究中心访问学者, 从事小儿过敏性疾病研究。2000-2002年美国纽约州立大学布法罗儿童医院访问教授,从事原发性免疫缺陷病、小儿过敏和风湿病临床与科研工作。

主要成就

在中国大陆最早独立开展原发性免疫缺陷病基因诊断并应用于临床。建立了多种原发性免疫缺陷病的诊治规范(如XLA、CGD等),建立了卡介苗病的临床诊治流程,并阐述了其免疫相关机制。 在国内率先开展原发性免疫缺陷病的产前诊断和出生筛查工作;在国内率先对某些免疫缺陷病进行靶向治疗,主导和主要参与了4种新的原发性免疫缺陷病致病基因的发现和研究。 所在科室是国内最大的原发性免疫缺陷病临床和研究中心。主持国家自然科学基金、卫生部行业科研专项等项目。

所获奖项

获得上海市医学科技三等奖(排名第一),上海市科学技术一等奖(排名第二),中华预防医学会科技奖三等奖(排名第一)

主要研究方向

1. 原发性免疫缺陷病诊治研究
2. 原发性免疫缺陷病基因诊断

代表论文

(1) Tao P, Sun J, Wu Z, Wang S, Wang J, Li W, Pan H, Bai R, Zhang J, Wang Y, Lee PY, Ying W, Zhou Q, Hou J, Wang W, Sun B, Yang M, Liu D, Fang R, Han H, Yang Z, Huang X, Li H, Deuitch N, Zhang Y, Dissanayake D, Haude K, McWalter K, Roadhouse C, MacKenzie JJ, Laxer RM, Aksentijevich I, Yu X, Wang X, Yuan J, Zhou Q. A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Nature. 2020 Jan;577(7788):109-114.(共同第一和共同通讯作者)

(2) Bohlen J, Zhou Q, Philippot Q, Ogishi M, Rinchai D, Nieminen T, Seyedpour S, Parvaneh N, Rezaei N, Yazdanpanah N, Momenilandi M, Conil C, Neehus AL, Schmidt C, Arango-Franco CA, Voyer TL, Khan T, Yang R, Puchan J, Erazo L, Roiuk M, Vatovec T, Janda Z, Bagarić I, Materna M, Gervais A, Li H, Rosain J, Peel JN, Seeleuthner Y, Han JE, L'Honneur AS, Moncada-Vélez M, Martin-Fernandez M, Horesh ME, Kochetkov T, Schmidt M, AlShehri MA, Salo E, Saxen H, ElGhazali G, Yatim A, Soudée C, Sallusto F, Ensser A, Marr N, Zhang P, Bogunovic D, Cobat A, Shahrooei M, Béziat V, Abel L, Wang X, Boisson-Dupuis S, Teleman AA, Bustamante J, Zhang Q, Casanova JL. Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria. Cell. 2023 Nov 9;186(23):5114-5134.e27.(共同第二作者)

(3) IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency. Sci Immunol. 2023 Jan 20;8(79):eade7953.(共同作者,发现新致病基因)

(4) Li Q, Wang W, Wu Q, Zhou Q, Ying W, Hui X, Sun B, Hou J, Qian F, Wang X, Sun J. Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity. J Clin Immunol. 2024 Apr 18;44(4):102.(通讯作者)

(5) Zeng Y, Ying W, Wang W, Hou J, Liu L, Sun B, Hui X, Gu Y, Song X, Wang X, Sun J. Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study. J Clin Immunol. 2023 May;43(4):756-768. (通讯作者)

(6) Sun B, Zhu Z, Hui X, Sun J, Wang W, Ying W, Zhou Q, Yao H, Hou J, Wang X. Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort. J Clin Immunol. 2022 Oct;42(7):1564-1579. (通讯作者)

(7) Min Q, Meng X, Zhou Q, Wang Y, Li Y, Lai N, Xiong E, Wang W, Yasuda S, Yu M, Zhang H, Sun J, Wang X, Wang JY. RAG1 splicing mutation causes enhanced B cell differentiation and autoantibody production. JCI Insight. 2021 Oct 8;6(19):e148887.(共同通讯作者)

(8) Hui X, Liu D, Wang W, Hou J, Ying W, Zhou Q, Yao H, Sun J, Wang X. Low-Dose Pioglitazone does not Increase ROS Production in Chronic Granulomatous Disease Patients with Severe Infection. J Clin Immunol. 2020 Jan;40(1):131-137. (通讯作者)

(9) Lai N, Liu L, Lin L, Cui C, Wang Y, Min Q, Xiong E, Wang W, Ying W, Zhou Q, Hou J, Sun J, Wang JY, Wang X. Effective and safe treatment of a novel IL2RA deficiency with rapamycin. J Allergy Clin Immunol Pract. 2020 Mar;8(3):1132-1135.e4. (共同通讯)

(10) Jing Y, Kang D, Liu L, Huang H, Chen A, Yang L, Jiang P, Li N, Miller H, Liu Z, Zhu X, Yang J, Wang X, Sun J, Liu Z, Liu W, Zhou X, Liu C. Dedicator of cytokinesis protein 2 couples with lymphoid enhancer-binding factor 1 to regulate expression of CD21 and B-cell differentiation. J Allergy Clin Immunol. 2019 Nov;144(5):1377-1390.e4. (共同通讯)

(11) Ying W, Liu D, Dong X, Wang W, Hui X, Hou J, Yao H, Zhou Q, Sun B, Sun J, Wang X. Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China. J Clin Immunol. 2019 Aug;39(6):600-610.(通讯作者)

(12) Sun B, Chen Q, Dong X, Liu D, Hou J, Wang W, Ying W, Hui X, Zhou Q, Yao H, Sun J, Wang X. Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations. J Clin Immunol. 2019 Apr;39(3):309-315.(通讯作者)

(13) Dong X, Liu L, Wang Y, Yang X, Wang W, Lin L, Sun B, Hou J, Ying W, Hui X, Zhou Q, Liu D, Yao H, Sun J, Wang X. Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia. J Clin Immunol. 2019 Feb;39(2):188-194.(通讯作者)

(14) Wang Y, Wang W, Liu L, Hou J, Ying W, Hui X, Zhou Q, Liu D, Yao H, Sun J, Wang X. Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome. J Clin Immunol. 2018 Nov;38(8):854-863.(通讯作者)

(15) Ding Y, Zhou L, Xia Y, Wang W, Wang Y, Li L, Qi Z, Zhong L, Sun J, Tang W, Liang F, Xiao H, Qin T, Luo Y, Zhao X, Shu Z, Ru Y, Dai R, Wang H, Wang Y, Zhang Y, Zhang S, Gao C, Du H, Zhang X, Chen Z, Wang X, Song H, Yang J, Zhao X. Reference values for peripheral blood lymphocyte subsets of healthy children in China. J Allergy Clin Immunol. 2018 Sep;142(3):970-973.e8. (共同通讯作者)

(16) Zhou Q, Hui X, Ying W, Hou J, Wang W, Liu D, Wang Y, Yu Y, Wang J, Sun J, Zhang Q, Wang X. A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017). J Clin Immunol. 2018 Apr;38(3):260-272.(通讯作者)

(17) Wang Y, Kanegane H, Wang X, Han X, Zhang Q, Zhao S, Yu Y, Wang J, Miyawaki T. Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. J Clin Immunol. 2009 May;29(3):352-6.(通讯作者)

(18) Hu Y, Han L, Xu W, Li T, Zhao Q, Lu W, Sun J, Wang Y. CARD11 regulates the thymic Treg development in an NF-κB-independent manner. Front Immunol. 2024 Apr 8;15:1364957.(通讯作者)