Qintao Wang, Honghao Zhu, Xiangwei Sun, Changming Zhang, Shuangyue Ma, Ying Jin, Jinjian Fu, ..., 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. 

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.  

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.

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.

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.

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.

Pui Y. Lee, Ivona Aksentijevich, Qing Zhou#. Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2). Seminars in Immunopathology. 2022 May;44(3):269-280. 

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.

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.

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.

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.  

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