Title:Professor
Email:zhouqing@ibms.pumc.edu.cn
Technology field and major achievements
Prof. Zhou’s research focuses on autoinflammatory diseases. She has discovered novel autoinflammatory disorders, including CRIA, PLDD, DADA2, LIRSA, HA20, Otulipenia, APLS, APLAID, and AP1M2 deficiency. Prof.Zhou identified novel disease-causing genes in autoinflammatory disorders, including RIPK1, PLD4, ADA2, IL1R1, TNFAIP3, OTULIN, PLCG1, PLCG2, and AP1M2, as well as somatic mutations in NLRP3, NLRC4, and TLR7. Through studies of disease pathogenesis, her research demonstrated that cell death and deubiquitination defects can cause autoinflammatory diseases. These discoveries have been translated into clinical practice, leading to the development of mechanism-based targeted therapies that have successfully treated seven autoinflammatory diseases.
Representativeness
Qintao Wang, Honghao Zhu, Xiangwei Sun, Changming Zhang, Shuangyue Ma, Ying Jin, Jinjian Fu, Chenlu Liu, Jiahui Peng, Ruoran Wang, Lin Liu, Yi Zeng, Cheng Gong, Qing Zhou#, Xiaomin Yu#, Zhihong Liu#. Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus. Nature 2025. doi: 10.1038/s41586-025-09513-x.
Panfeng Tao, Jinqiao Sun, Zheming Wu, Shihao Wang, Jun Wang, Wanjin Li,..., Xiaomin Yu#, Xiaochuan Wang#, Junying Yuan#, Qing Zhou#. A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Nature 2020 Jan;577(7788):109-114.
Yusha Wang, Jun Wang, Wenjie Zheng, Jiahui Zhang, Jinbo Wang, Taijie Jin, Panfeng Tao, Yibo Wang, Chenlu Liu, Jiqian Huang, Pui Y. Lee, Xiaomin Yu#, Qing Zhou#. Identification of an IL-1 receptor mutation driving autoinflammation directs IL-1-targeted drug design. Immunity 2023 Jul 11;56(7):1485-1501.
Lin Liu, Jun Wang, Yan Ding, Li Guo, Mikhail Kostik, Meiping Lu, …, Xiaomin Yu#, Qing Zhou#. TBXAS1 deficiency causes autoinflammation responsive to IL-6 inhibitor. Annals of the Rheumatic Diseases 2025 Oct 28:S0003-4967(25)04428-0.
Yi Zeng, Panfeng Tao, Jun Wang, Ting Li, Yue Du, Xiuli Wang, Wei Wang, Siming Peng, Wei Wang, Mingsheng Ma, Hongmei Song#, Xiaomin Yu#, Qing Zhou#. Somatic gain-of-function mutation in TLR7 causes early-onset systemic lupus erythematosus. Annals of the Rheumatic Diseases 2025 Mar;84(3):442-450.
Jun Wang, Qiao Ye, Wenjie Zheng, Xiaomin Yu, Fang Luo, Ran Fang, Yaoyao Shangguan, Zhijun Du, Pui Y Lee, Taijie Jin#, Qing Zhou#. Low-ratio somatic NLRC4 mutation causes late-onset autoinflammatory disease. Annals of the Rheumatic Diseases 2022 Aug;81(8):1173-1178.
Jialin Dai, Taijie Ji, Gaixiu Su, Xu Han,…, Junying Yuan#, Xiaomin Yu#, Qing Zhou#. CD8+ T cell loss induces autoinflammation in inborn errors of cell death. Nature Communications 2026 Mar 11.doi: 10.1038/s41467-026-70317-2.
Panfeng Tao, Shihao Wang, Seza Ozen, Pui Y Lee, Jiahui Zhang, Jun Wang, Huan Han, Zhaohui Yang, Ran Fang, Wanxia Li Tsai, Huanming Yang, Erdal Sag, Rezan Topaloglu, Ivona Aksentijevich, Xiaomin Yu#, Qing Zhou#. Deubiquitination of proteasome subunits by OTULIN regulates type I IFN production. Science advances 2021 Nov 19;7(47):eabi6794.
Tingyan He, Jun Wang, Manuel Carpio Tumba, Shihao Wang, …, Daniella M Schwartz#, Jun Yang#, Qing Zhou#. Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution. Journal of Allergy and Clinical Immunology, 2026 Feb 13:S0091-6749(26)00083-7.
Panfeng Tao, Xu Han, Qintao Wang, Shihao Wang, Jiahui Zhang, Lin Liu, Xiaorui Fan, Chenlu Liu, Meng Liu, Li Guo, Pui Y. Lee, Ivona Aksentijevich, Qing Zhou#. A gain-of-function variation in PLCG1 causes a new immune dysregulation disease. Journal of Allergy and Clinical Immunology, 2023 Nov;152(5):1292-1302.
Natalie T Deuitch#, Dan Yang, Pui Y Lee, Xiaomin Yu, ..., Daniel L Kastner, Ivona Aksentijevich#, Qing Zhou#. TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2). Journal of Allergy and Clinical Immunology, 2022 May;149(5):1812-1816.e6.
Jinjian Fu, Qiong Fu, Jun Wang, Qintao Wang, Liang Zhang, Huihui Chi, Lei Zhang, …, Hongmei Song#, Jianghua Chen#, Jun Yang#, Zhihong Liu#, Xiaomin Yu#, Qing Zhou#. Landscape of somatic mutations in a large cohort of Chinese patients with immune dysregulations. Arthritis & Rheumatology 2026 Mar 9. doi: 10.1002/art.70126.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, …, Xiaomin Yu#, Qing Zhou#, Jun Yang#. OGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor. Arthritis & Rheumatology 2026 Jan 22. doi: 10.1002/art.70057.
Taijie Ji, Jialin Dai, Chenlu Liu, Renkui Ba, …, Xiaomin Yu#, Qing Zhou#. Deficiency of AP1M2 causes a new autoinflammatory disease with colitis. Arthritis & Rheumatology 2025 Dec 26. doi: 10.1002/art.70038.
Zhaohui Yang, Panfeng Tao, Xu Han, Anna Kozlova, Tingyan He, Egor Volchkov, Zoya Nesterenko, Dmitryi Pershin, Elena Raykina, Timur Fatkhudinov, Anastasia Korobeynikova, Ivona Aksentijevich, Jun Yang, Anna Shcherbina, Qing Zhou#, Xiaomin Yu#. Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor. Arthritis & Rheumatology 2024 Nov; 76(11):1670-1678.
Kai Yan, Jiahui Zhang, Pui Y Lee, Panfeng Tao, Jun Wang, Shihao Wang, Qing Zhou#, Minyue Dong#. Haploinsufficiency of PSMD12 causes proteasome dysfunction and subclinical autoinflammation. Arthritis & Rheumatology 2022 Jun;74(6):1083-1090.
Jiahui Peng, Yusha Wang, Xu Han, Changming Zhang,... , Qing Zhou#, Zhihong Liu#. Clinical Implications of a New DDX58 Pathogenic Variant That Causes Lupus Nephritis due to RIG-I Hyperactivation. Journal of The American Society of Nephrology, 2023 Feb 1;34(2):258-272.
Changming Zhang, Xu Han, Ying Jin, Xiang Chen, … Xiaomin Yu, Qing Zhou#, Zhihong Liu#. Pathogenic Gene Spectrum and Clinical Implication in Chinese Patients with Lupus Nephritis. Clinical Journal of the American Society of Nephrology. 2023 Jul 1;18(7):869-880.
Jiahui Zhang, Pui Y.Lee, Ivona Aksentijevich, Qing Zhou#. How to build a fire: the genetics of autoinflammtory diseases. Annual Review of Genetics, 2023 Nov 27:57:245-274.
Qing Zhou*, Dan Yang*, Amanda K. Ombrello, Daniel L Kastner, Ivona Aksentijevich, et al. Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2. New England Journal of Medicine 2014; 370(10):911-920.
Qing Zhou*, Hongying Wang*, Daniella M. Schwartz, Daniel L Kastner, Ivona Aksentijevich, et al. Loss-of-Function Mutations in TNFAIP3 Leading to A20 Haploinsufficiency Cause an Early Onset Autoinflammatory Disease. Nature Genetics 2016, Jan;48(1):67-73.
Qing Zhou*, Xiaomin Yu*, Erkan Demirkaya, Daniel L Kastner, Ivona Aksentijevich, et al. Biallelic Hypomorphic Mutations in a Linear Deubiquitinase Define Otulipenia, an Early-Onset Autoinflammatory Disease. Proceedings of the National Academy of Sciences, 2016 Sep 6;113(36):10127-32.
Qing Zhou*, Geun-Shik Lee*, Jillian Brady, Daniel L Kastner, Ivona Aksentijevich, et al. A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cg2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency. The American Journal of Human Genetics 2012 Oct 5;91(4):713-20.
Qing Zhou, Ivona Aksentijevich, Geryl M. Wood, et al. Cryopyrin-associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation. Arthritis & Rheumatology 2015 Sep;67(9):2482-6.
Daniel L. Kastner, Qing Zhou, Ivona Aksentijevich. Mutant ADA2 in Vasculopathies. New England Journal of Medicine 2014 Jul 31;371(5):480.
Joris van Montfrans, Andrey Zavialov, Qing Zhou. Mutant ADA2 in Vasculopathies. New England Journal of Medicine 2014 Jul 31;371(5):478.
Kalpana Manthiram, Qing Zhou, Ivona Aksentijevich, Daniel L Kastner. The Monogenic Autoinflammatory Diseases Define New Pathways in Human Innate Immunity and Inflammation. Nature Immunology, 18, 832–842, 2017.
Erkan Demirkaya*, Qing Zhou*, Carolyne K. Smith*, Ivona Aksentijevich, et al. Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.Arthritis & Rheumatology 2017, Sep;69(9):1832-1839.
Extended list of publications:
https://scholar.google.com/citations?user=Lf548mYAAAAJ&hl=en