Article
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Journal of clinical immunology - 1 May 2021
Tanita Kay, Sakura Fumiaki, Nambu Ryusuke, Tsumura Miyuki, Imanaka Yusuke, Ohnishi Hidenori, Kato Zenichiro, Pan Jie, Hoshino Akihiro, Suzuki Koji, Yasutomi Motoko, Umetsu Shuichiro, Okada Chizuru, Takagi Masatoshi, Imai Kohsuke, Ohara Osamu, Muise Alexo M, Okada Satoshi, Morio Tomohiro, Kanegane Hirokazu
Abstract excerpt
PURPOSE: Germline loss-of-function variants in the signal transducer and activator of transcription 3 (STAT3) gene result in autosomal dominant hyper IgE syndrome, whereas somatic gain-of-function (GOF) variants in STAT3 are associated with some malignancies. In addition, germline GOF variants in STAT3 are linked to disorders involving autoimmunity and lymphoproliferation. In this study, we describe five Japanese...
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