Article
Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution.
The Journal of allergy and clinical immunology - 1 Jun 2026
He Tingyan, Wang Jun, Carpio Tumba Manuel, Wang Shihao, Luo Youyou, Chen Jie, Li Guomin, Shu Zhou, Zhang Song, Stone Deborah L, Huang Yanyan, Lv Qianying, Xiong Wen, Wang Jinbo, Yu Zhongxun, Cuff Charlotte Vera, Kairis Elizabeth, Kethri Akuti, Towheed Atif, Goyette Kyr, Karri Urekha, Wang Jiebiao, Liu Chen, Romeo Tina, Alsina Laia, Rosenberg Daniel L, Clemente Daniel, López-Robledillo Juan Carlos, Rong Zanhua, Zhao Xue, Jiang Lijun, Aldave-Becerra Juan Carlos, Muñoz-Urribarri Ana Beatriz, Oommen Prasad Thomas, Campbell-Stokes Priscilla, Zhu Meifang, Liu Peng, Guo Li, Xu Yiping, Yu Zihua, Tong Huajuan, Qiu Xiaojian, Zhang Yazhi, Chen Hongbo, Zhang Changming, Ou Junbin, Liu Congcong, Liu Jinxiang, Shen Yunyan, Cao Jianshe, Zhang Xinping, Yang Kangkang, Bao Ying, Li Zhijuan, Cao Jie, Duan Yuanhui, Liu Fujuan, Shi Buyun, Sun Min, Ma Li, Chen Yongxing, Yang Wei, Han Xu, Ma Shuangyue, Luo Jie, Gu Weiyue, Yu Guoliang, Shi Weina, Zhao Ruiqin, Sun Lei, Li Wenhui, An Yunfei, Tang Xuemei, Zhao Xiaodong, Han Tongxin, Ma Jing, Li Yan, Piao Yurong, Sun Fei, Zhang Dongfeng, Yin Meina, Zheng Shaoling, Li Tianwang, Niu Huizhong, Lin Li, Mei Shiyue, Zhou Fang, Yang Sirui, Li Danlu, Yan Mei, Zeng Huasong, Zeng Ping, Zheng Wenjie, Li Xiaozhong, Li Xiaolin, Liu Yuling, Huang Lijuan, Yu Haiguo, Fan Zhidan, Shen Min, Lu Meiping, Fang Zhihao, Rimland Casey Allison, Song Hongmei, Peterson Lance W, Yousuf Al-Nesf Maryam Ali, Aqel Sami, Mudawi Dalal Sideeg, Raje Nikita, Slowik Voytek, Harris Julia G, Snyder Brenda, Scheffler-Mendoza Selma, Yamazaki-Nakashimada Marco Antonio, Cooper Megan A, Lau Yu Lung, Cetin Gedik Kader, Wang Wenjie, Ying Wenjing, Hou Jia, Zhou Qinhua, Sun Bijun, Sun Jinqiao, Wang Xiaochuan, Ombrello Amanda K, Huang Ying, Wu Hai-Lin, Sun Li, Mao Huawei, Yu Xiaomin, Liu Zhihong, Aksentijevich Ivona, Kastner Daniel L, Schwartz Daniella M, Yang Jun, Zhou Qing
Abstract excerpt
BACKGROUND: Haploinsufficiency of A20 (HA20) is an immune dysregulation disorder caused by loss-of-function TNFAIP3 mutations. This international multicenter study aimed to delineate its clinical spectrum, genetic basis, and natural history. METHODS: A cross-sectional retrospective analysis was conducted in HA20 patients with pathogenic or likely pathogenic TNFAIP3 variants. Clinical, laboratory, and treatment...