ArticleArthritis & rheumatology (Hoboken, N.J.)2026
Landscape of Somatic Mutations in a Large Cohort of Chinese Patients With Immune Dysregulations.
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Article in Arthritis & rheumatology (Hoboken, N.J.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Somatic Variants in Immune Dysregulation: An Ongoing Challenge.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
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Authors and funding
78 authors.
Jinjian FuLife Sciences Institute, Zhejiang University, Department of Rheumatology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Qiong FuDepartment of Rheumatology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Jun WangLiangzhu Laboratory of Zhejiang University, Hangzhou, China.
Qintao WangLiangzhu Laboratory of Zhejiang University, Hangzhou, China.ORCID https://orcid.org/0000-0001-6884-3408
Liang ZhangThe Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, China.
Huihui ChiDepartment of Rheumatology and Immunology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0000-0001-9587-1180
Lei ZhangDepartment of Rheumatology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.ORCID https://orcid.org/0000-0003-4105-0824
Li SunDepartment of Rheumatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Ying HuangDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Tingyan HeDepartment of Rheumatology and Immunology, Shenzhen Children's Hospital, Shenzhen, China.
Yuhao YaoLife Sciences Institute, Zhejiang University, Department of Rheumatology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Xu HanLiangzhu Laboratory of Zhejiang University, Hangzhou, China.
Shuangyue MaLiangzhu Laboratory of Zhejiang University, Hangzhou, China.
Chenlu LiuLife Sciences Institute, Zhejiang University, Department of Rheumatology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Lin LiuLife Sciences Institute, Zhejiang University, Department of Rheumatology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Xiang ChenLiangzhu Laboratory of Zhejiang University, Hangzhou, China.
Shihao WangLiangzhu Laboratory of Zhejiang University, Hangzhou, China.
Hong JiangKidney Disease Center, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Wenjie ZhengDepartment of Pediatric Rheumatology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
Shaoling ZhengDepartment of Rheumatology and Immunology, Guangdong Second Provincial General Hospital, Guangzhou, China.
Qiao YeDepartment of Rheumatology, The Second Affiliated Hospital of Jiaxing University, Jiaxing, China.
Yue DuDepartment of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
Li GuoDepartment of Rheumatology Immunology and Allergy, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.ORCID https://orcid.org/0000-0003-0088-868X
Jing ZhuDepartment of Rheumatology and Immunology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Guomin LiDepartment of Rheumatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Changming ZhangNational Clinical Research Center of Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Zhimiao LinDermatology Hospital, Southern Medical University, Guangzhou, China.
Xiuli JuPediatric Department, Qilu Hospital of Shandong University, Jinan, China.
Yongmei HanLiangzhu Laboratory of Zhejiang University, Hangzhou, China.
Weiqian ChenDivision of Rheumatology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.ORCID https://orcid.org/0000-0003-3819-7841
Jin LinDivision of Rheumatology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.ORCID https://orcid.org/0000-0002-9970-9380
Jing XueDepartment of Rheumatology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.ORCID https://orcid.org/0000-0001-6682-6575
Hao ChengDepartment of Dermatology and Venereology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Caiqing XuYiwu Hospital Affiliated to Hangzhou Medical College, Jinhua, China.
Lin HuangSchool of Basic Medical Sciences, Zhejiang Chinese Medical University, Hangzhou, China.ORCID https://orcid.org/0000-0002-8036-8408
Longyan QinDepartment of Rheumatology and Immunology, The Affiliated Hospital of Guizhou Medical University, Guiyang, China.
Jiashun ZengDepartment of Rheumatology and Immunology, The Affiliated Hospital of Guizhou Medical University, Guiyang, China.
Yifang MeiThe Second Affiliated Hospital of Southern University of Science and Technology, Shenzhen, China.
Tingting YanDepartment of Rheumatology, The Second Affiliated Hospital of Jiaxing University, Jiaxing, China.
Qianying LvDepartment of Rheumatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Yaoyao ShangguanDepartment of Pediatric Rheumatology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
Cuifang ZhengDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xiaoliang HeDepartment of Rheumatology, Children's Hospital of Anhui Province, Hefei, China.
Hongfei LiuHe Bei Yanda Hospital, Langfang, China.
Xiaoli ChenDepartment of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
Hua XieDepartment of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
Xue LiPediatric Department, Qilu Hospital of Shandong University, Jinan, China.
Ying JinNational Clinical Research Center of Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Jiahui PengLiangzhu Laboratory of Zhejiang University, Hangzhou, China.
Bo LinUrology & Nephrology Center, Department of Nephrology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, China.
Yao HuangDepartment of Nephrology, Zhejiang Provincial People's Hospital Bijie Hospital, Bijie, China.
Xiuli WangDepartment of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
Xiaoxi YangState Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Beijing, China.
Nan JiangState Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Beijing, China.ORCID https://orcid.org/0000-0001-5287-8593
Wei WangDepartment of Pediatrics, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Tong WuDepartment of Rheumatology and Immunology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Dongze WuDepartment of Rheumatology and Immunology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.ORCID https://orcid.org/0000-0002-5571-8728
Yun ZhuDepartment of Rheumatology and Immunology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Yakai FuDepartment of Rheumatology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0000-0002-3094-5713
Jie ChenDepartment of Rheumatology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ran WangDepartment of Rheumatology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0000-0001-7857-8433
Xiaojun LiuDepartment of Rheumatology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Dongbin JiangDepartment of Rheumatology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Huijie XiaoDepartment of Pediatrics, Peking University First Hospital, Beijing, China.
Baige SuDepartment of Pediatrics, Peking University First Hospital, Beijing, China.
Benshan ZhangDepartment of Hematology, Hunan Children's Hospital, Changsha, China.
Fengqi WuChildren's Hospital, Capital Institute of Pediatrics, Beijing, China.
Qiongyi HuDepartment of Rheumatology and Immunology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0000-0002-4825-5227
Chengde YangDepartment of Rheumatology and Immunology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Meiping LuDepartment of Rheumatology Immunology and Allergy, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.ORCID https://orcid.org/0000-0002-4930-9493
Shuang YeDepartment of Rheumatology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Min ShenDepartment of Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0003-1912-126X
Hongmei SongDepartment of Pediatrics, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0001-9801-2517
Jianghua ChenKidney Disease Center, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Jun YangDepartment of Rheumatology and Immunology, Shenzhen Children's Hospital, Shenzhen, China.
Zhihong LiuNational Clinical Research Center of Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.ORCID https://orcid.org/0000-0001-6093-0726
Xiaomin YuLife Sciences Institute, Zhejiang University, Department of Rheumatology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Qing ZhouLife Sciences Institute, Zhejiang University, Department of Rheumatology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.ORCID https://orcid.org/0000-0003-0290-1286
Funding
China Postdoctoral Science Foundation 2023M733104Clinical Research Project for the Summit Program of Children's Hospital of Chongqing Medical University CHCMU-2024-XKDF-1001Key Technology Breakthrough Program of Ningbo Sci-Tech Innovation YONGJIANG 2035 2024Z221Leading Innovative and Entrepreneur Team Introduction Program of Zhejiang 2021R01012National Key Research and Development Program of China 2021YFC2702000National Key Research and Development Program of China 2024YFC2511002National Natural Science Foundation of China 32141004National Natural Science Foundation of China 32321002National Natural Science Foundation of China 82225022National Natural Science Foundation of China 82394420National Natural Science Foundation of China 82394423National Natural Science Foundation of China 82394424National Natural Science Foundation of China 82402118National Natural Science Foundation of China 82402121National Natural Science Foundation of China 82471844New Cornerstone Science FoundationStartup Foundation for Hundred-Talent Program of Zhejiang University
Abstract
objectiveThis study aims to characterize pathogenic somatic mutations in patients with autoinflammatory or autoimmune diseases lacking disease-causing germline mutations, explore their contribution to disease pathogenesis and progression, and evaluate their implications for diagnosis and targeted therapy.
methodsWe performed a systematic analysis of somatic mutations in a selected panel of 185 immune-related genes in 2,912 patients with autoinflammatory or autoimmune diseases, recruited from 41 medical centers across China, who were previously negative for germline mutations based on whole-exome sequencing.
resultsWe identified both previously reported and novel somatic mutations in genes such as UBA1, KRAS, and NLRP3. Pathogenic somatic mutations in TNFAIP3 were discovered first in patients with autoinflammatory diseases. The pathogenic somatic mutation detection rate was 1.35% in adults and 0.97% in children, emphasizing the importance of genetic diagnosis and novel gene discovery for somatic mutations. In addition, somatic mutations in Ras-related genes were identified in seven patients, and 39 clonal hematopoiesis-associated mutations were identified in 36 adult patients. Moreover, myeloid cells harboring somatic mutations expanded during disease flare and reduced during remission. Disregarding the dynamic elevation of the variant allele fraction during disease progression led to therapeutic failure.
conclusionThis study delineated the genetic landscape of pathogenic somatic mutations underlying autoinflammatory and autoimmune diseases, offering valuable insights for genetic diagnosis and targeted therapies.
Indexed as
Autoimmune DiseasesHereditary Autoinflammatory DiseasesMutationAdolescentAdultChildChild, PreschoolChinaClonal HematopoiesisEast Asian PeopleExome SequencingFemaleHumansMaleMiddle AgedNLR Family, Pyrin Domain-Containing 3 ProteinNLR Family, Pyrin Domain-Containing 3 ProteinNLRP3 protein, humanTNFAIP3 protein, humanTumor Necrosis Factor alpha-Induced Protein 3Ubiquitin-Activating Enzymes
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