A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China

作者全名："Sun, Gan; Wu, Maolan; Lv, Qianying; Yang, Xi; Wu, Junfeng; Tang, Wenjing; Dai, Rongxin; Zhou, Lina; Ding, Yuan; Zhang, Zhiyong; An, Yunfei; Tang, Xuemei; Zheng, Xiangrong; Wang, Zhaoxia; Sun, Li; Xie, Yongmei; Zhao, Xiaodong; Du, Hongqiang"

作者地址："[Sun, Gan; Yang, Xi; Wu, Junfeng; Tang, Wenjing; Dai, Rongxin; Zhou, Lina; Ding, Yuan; Zhang, Zhiyong; An, Yunfei; Tang, Xuemei; Zhao, Xiaodong; Du, Hongqiang] Chongqing Med Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth & Disorders Chongqing, Dept Rheumatol & Immunol,Minist Educ Key Lab Child, Chongqing, Peoples R China; [Wu, Maolan; Zheng, Xiangrong] Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China; [Lv, Qianying; Sun, Li] Fudan Univ, Natl Pediat Med Ctr China, Childrens Hosp, Dept Rheumatol, Shanghai, Peoples R China; [Wang, Zhaoxia] Shenzhen Childrens Hosp, Dept Gastroenterol, Shenzhen, Peoples R China; [Xie, Yongmei] Sichuan Univ, West China Second Univ Hosp, Dept Pediat, Chengdu, Sichuan, Peoples R China; [Zhao, Xiaodong] Chongqing Med Univ, Affiliated Hosp 2, Chongqing, Peoples R China"

通信作者："Zhao, XD; Du, HQ (通讯作者)，Chongqing Med Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth & Disorders Chongqing, Dept Rheumatol & Immunol,Minist Educ Key Lab Child, Chongqing, Peoples R China.; Zheng, XR (通讯作者)，Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China.; Sun, L (通讯作者)，Fudan Univ, Natl Pediat Med Ctr China, Childrens Hosp, Dept Rheumatol, Shanghai, Peoples R China.; Wang, ZX (通讯作者)，Shenzhen Childrens Hosp, Dept Gastroenterol, Shenzhen, Peoples R China.; Xie, YM (通讯作者)，Sichuan Univ, West China Second Univ Hosp, Dept Pediat, Chengdu, Sichuan, Peoples R China.; Zhao, XD (通讯作者)，Chongqing Med Univ, Affiliated Hosp 2, Chongqing, Peoples R China."

来源：JOURNAL OF CLINICAL IMMUNOLOGY

ESI学科分类：IMMUNOLOGY

WOS号：WOS:000937280900002

JCR分区：Q1

影响因子：7.2

年份：2023

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文献类型：Article; Early Access

关键词：ELF4; DEX; immune dysregulation disorders; novel variants; inborn errors of immunity

摘要："Patients with DEX (deficiency in ELF4, X-linked) were recently reported by our team and others, and cases are very limited worldwide. Our knowledge of this new disease is currently preliminary. In this study, we described 5 more cases presenting mainly with oral ulcer, inflammatory bowel disease-like symptoms, fever of unknown origin, anemia, or systemic lupus erythematosus. Whole exome sequencing identified potential pathogenic ELF4 variants in all cases. The pathogenicity of these variants was confirmed by the detection of ELF4 expression in peripheral blood mononuclear cells from patients and utilizing a simple IFN-b luciferase reporter assay, as previously reported. Our findings significantly contribute to the current understanding of DEX."

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