Landscape of somatic mutations in a large cohort of Chinese patients with immune dysregulations

This study delineated the genetic landscape of pathogenic somatic mutations underlying autoinflammatory and autoimmune diseases, offering valuable insights for genetic diagnosis and targeted therapies.

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Publication Details

Journal
Arthritis & Rheumatology
Published
2026-03-09
DOI
https://doi.org/10.1002/art.70126
Primary Topic
Immunodeficiency and Autoimmune Disorders
Type
article
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article

Landscape of somatic mutations in a large cohort of Chinese patients with immune dysregulations

Huihui Chi, Yi Jin, Jiemin Fu, Changli Liu et al.
Arthritis & Rheumatology
Immunodeficiency and Autoimmune Disorders
article

Landscape of somatic mutations in a large cohort of Chinese patients with immune dysregulations

Huihui Chi, Yi Jin, Jiemin Fu, Changli Liu, Qintao Wang, Yifang Mei, Luyi Huang, Li Sun, Jun Cheng, Yang Du, Ning Jiang, Xiaodong Li, Chao Zheng, Qiongyi Hu, S. Lilly Zheng, Dan Wu, Qianying Lv, Tong Wu, Huijie Xiao, Zhimiao Lin, Qiang Fu, Weiqian Chen, He Liu, Xiang Chen, Xiaomin Yu, M. Zhang, Yuqi Han, Jun Lin, Ruixue Wang, Xiaoliang He, Tingting Yan, Xiaojun Liu, Xiuli Ju, Yuhao Yao, Hang Song, W. J. Zheng, S. Ye, Jing Xue, Min Shen, Longyan Qin, Jun Wang, Yang Liu, Yaoyao Shangguan, Shihao Wang, Xiaoxi Yang, Yakai Fu, Bo Lin, Hua Xie, Xiuli Wang, Yun Zhu, Qiao Ye, Jun Yang, Xu Han, Meiping Lu, Chengde Yang, Xiaoli Chen, Ying Huang, Wei Wang, Li Guo, Caiqing Xu, Jing Zhu, Benshan Zhang, Fengqi Wu, Baige Su, Jie Chen, Hao Cheng, Jiashun Zeng, Guomin Li, Hong Jiang, Liang Zhang, Lin Liu, Jiahui Peng, Yao Huang, Tingyan He, Shuangyue Ma, Qing Zhou, Dongbin Jiang, Lei Zhang
article en

Abstract

This study delineated the genetic landscape of pathogenic somatic mutations underlying autoinflammatory and autoimmune diseases, offering valuable insights for genetic diagnosis and targeted therapies.

Arthritis & Rheumatology
Zhejiang Chinese Medical University (CN), Ministry of Education of the People's Republic of China (CN), Central South University (CN), Guiyang Medical University (CN), University of Electronic Science and Technology of China (CN), Shanghai Jiao Tong University (CN), Chinese Academy of Sciences (CN), Chinese Academy of Medical Sciences & Peking Union Medical College (CN), Peking University (CN), Wenzhou Medical University (CN), Renji Hospital (CN), Peking Union Medical College Hospital (CN), Ruijin Hospital (CN), Sir Run Run Shaw Hospital (CN), Southern University of Science and Technology (CN), National Clinical Research Center for Digestive Diseases (CN), Jiaxing University (CN), Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University (CN), Capital Institute of Pediatrics (CN), Affiliated Hospital of Guizhou Medical University (CN), Nanjing Drum Tower Hospital (CN), Children's Hospital of Zhejiang University (CN), Quzhou University (CN), Zhoushan Hospital (CN), Peking University First Hospital (CN), Zhejiang Provincial People's Hospital (CN), Hunan Children's Hospital (CN), First Hospital of Jiaxing (CN), Shanghai Institute of Hematology (CN), Anhui Provincial Children's Hospital (CN), Shenzhen Children's Hospital (CN), Guangdong Provincial People's Hospital (CN), First Affiliated Hospital of Zhengzhou University (CN), Second Affiliated Hospital of Zhejiang University (CN), Children's Hospital of Fudan University (CN), Children's Hospital of Capital Institute of Pediatrics (CN), Qilu Hospital of Shandong University (CN), Langfang Normal University (CN), Hangzhou Medical College (CN), First Affiliated Hospital Zhejiang University (CN), Southern Medical University (CN), Nanjing University (CN), China Medical University (CN)
Good health and well-being
Openalex Percentile: Top 28%
Immunodeficiency and Autoimmune Disorders
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