Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder

Lee, Jeong Seok; An, Yohan; Yoon, Christopher J.; Kim, Jeong Yeon; Kim, Kyung Hwan; Freeman, Alexandra F.; Yim, Jae-Joon; Shin, Eui-Cheol; Holland, Steven M.; Lee, Eun Young; Ju, Young Seok

doi:10.1016/j.jaci.2019.11.028

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Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder

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Authors: Lee, Jeong Seok; An, Yohan; Yoon, Christopher J.; Kim, Jeong Yeon; Kim, Kyung Hwan; Freeman, Alexandra F.; Yim, Jae-Joon; Shin, Eui-Cheol; Holland, Steven M.; Lee, Eun Young; Ju, Young Seok