Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure

Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure

Background: In recent years, germline gain-of-function (GOF) mutations in signal transducer and activator of transcription 3 (STAT3) have been identified as a cause of early-onset multiorgan autoimmune diseases with the widespread use of next-generation sequencing, and targeted therapies such as toc...

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Main Authors: Koji Saito, MD, Minoru Fujimoto, MD, PhD, Eiji Funajima, MSc, Satoshi Serada, PhD, Tomoharu Ohkawara, MD, Masayuki Ishihara, MD, PhD, Mamiko Yamada, MD, PhD, Hisato Suzuki, MD, PhD, Fuyuki Miya, PhD, Kenjiro Kosaki, MD, PhD, Mikiya Fujieda, MD, PhD, Tetsuji Naka, MD, PhD
Format: Article
Language:English
Published: Elsevier 2024-11-01
Series:Journal of Allergy and Clinical Immunology: Global
Subjects:
STAT3
GOF
whole-exome sequencing
idiopathic pulmonary hemosiderosis
tocilizumab
IL-6
Online Access:http://www.sciencedirect.com/science/article/pii/S2772829324001085
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