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De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease
Author: Yu, Lang; Li, Wenhui; Lv, Ge; Sun, Gan; Yang, Lu; Chen, Junjie; Zhou, Lina; Ding, Yuan; Zhang, Zhiyong; Tang, Xuemei; An, Yunfei; Zhao, Xiaodong
Journal: JOURNAL OF CLINICAL IMMUNOLOGY. 2023; Vol. 43, Issue 1, pp. 88-100. DOI: 10.1007/s10875-022-01347-w
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A Novel RAC2 Mutation Causing Combined Immunodeficiency
Author: Zhang, Liang; Lv, Ge; Peng, Yu; Yang, Lu; Chen, Junjie; An, Yunfei; Zhang, Zhiyong; Tang, Xuemei; Li, Zhihui; Zhao, Xiaodong
Journal: JOURNAL OF CLINICAL IMMUNOLOGY. 2023; Vol. 43, Issue 1, pp. 229-240. DOI: 10.1007/s10875-022-01373-8
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Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications
Author: Aschenbrenner, Dominik; Ye, Ziqing; Zhou, Ying; Hu, Wenhui; Brooks, Isabel; Williams, Isabelle; Capitani, Melania; Gartner, Lisa; Kotlarz, Daniel; Snapper, Scott B.; Klein, Christoph; Muise, Aleixo M.; Marsden, Brian D.; Huang, Ying; Uhlig, Holm H.
Journal: JOURNAL OF CLINICAL IMMUNOLOGY. 2023; Vol. 43, Issue 2, pp. 495-511. DOI: 10.1007/s10875-022-01366-7
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The Clinical Significance and Prognostic Role of Whole-Blood Epstein-Barr Virus DNA in Lymphoma-Associated Hemophagocytic Lymphohistiocytosis
Author: Zhang, Jing; Qin, Shuchao; Jin, Ze; Chen, Qingqing; Xing, Lingxiao; Qiu, Tonglu; Xia, Yi; Liang, Jinhua; Zhu, Huayuan; Wang, Li; Fan, Lei; Xu, Wei; Li, Jianyong; Miao, Yi
Journal: JOURNAL OF CLINICAL IMMUNOLOGY. 2023; Vol. , Issue , pp. -. DOI: 10.1007/s10875-023-01493-9
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Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
Author: Zeng, Yuyuan; Ying, Wenjing; Wang, Wenjie; Hou, Jia; Liu, Luyao; Sun, Bijun; Hui, Xiaoying; Gu, Yu; Song, Xiaoyu; Wang, Xiaochuan; Sun, Jinqiao
Journal: JOURNAL OF CLINICAL IMMUNOLOGY. 2023; Vol. 43, Issue 4, pp. 756-768. DOI: 10.1007/s10875-022-01422-2
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Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)
Author: Li, Yan; Deng, Mengyue; Han, Tongxin; Mo, Wenxiu; Mao, Huawei
Journal: JOURNAL OF CLINICAL IMMUNOLOGY. 2023; Vol. 43, Issue 4, pp. 780-793. DOI: 10.1007/s10875-023-01441-7
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A Cohort Study on Deficiency of ADA2 from China
Author: Li, Guo-min; Han, Xu; Wu, Ye; Wang, Wei; Tang, Hong-xia; Lu, Mei-ping; Tang, Xue-mei; Lin, Yi; Deng, Fan; Yang, Jun; Wang, Xin-ning; Liu, Cong-cong; Zheng, Wen-jie; Wu, Bing-bing; Zhou, Fang; Luo, Hong; Zhang, Liang; Liu, Hai-mei; Guan, Wan-zhen; Wang, Shi-hao; Tao, Pan-feng; Jin, Tai-jie; Fang, Ran; Wu, Yuan; Zhang, Jie; Zhang, Yao; Zhang, Tian-nan; Yin, Wei; Guo, Li; Tang, Wen-jing; Chang, Hong; Zhang, Qiu-ye; Li, Xiao-zhong; Li, Jian-guo; Zhou, Zhi-xuan; Yang, Si-rui; Yang, Kang-kang; Xu, Hong; Song, Hong-mei; Deuitch, Natalie T.; Lee, Pui Y.; Zhou, Qing; Sun, Li
Journal: JOURNAL OF CLINICAL IMMUNOLOGY. 2023; Vol. 43, Issue 4, pp. 835-845. DOI: 10.1007/s10875-023-01432-8
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A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China
Author: 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
Journal: JOURNAL OF CLINICAL IMMUNOLOGY. 2023; Vol. , Issue , pp. -. DOI: 10.1007/s10875-023-01453-3