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In this study, we describe a patient with a homozygous mutation of IL6ST (encoding GP130 p.N404Y) who presented with recurrent infections, eczema, bronchiectasis, high IgE, eosinophilia, defective B cell memory, and an impaired acute-phase response, as well as skeletal abnormalities including craniosynostosis. The p.N404Y missense substitution is associated with loss of IL-6, IL-11, IL-27, and OSM signaling but a largely intact LIF response. 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Immunol."},{"key":"2023072603533369800_bib54","doi-asserted-by":"publisher","first-page":"2978","DOI":"10.1182\/blood-2013-09-523167","article-title":"A mouse model of HIES reveals pro- and anti-inflammatory functions of STAT3","volume":"123","author":"Steward-Tharp","year":"2014","journal-title":"Blood."},{"key":"2023072603533369800_bib55","doi-asserted-by":"publisher","first-page":"3801","DOI":"10.1073\/pnas.94.8.3801","article-title":"Targeted disruption of the mouse Stat3 gene leads to early embryonic lethality","volume":"94","author":"Takeda","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2023072603533369800_bib56","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1016\/j.ajhg.2015.07.006","article-title":"A genetic-pathophysiological framework for craniosynostosis","volume":"97","author":"Twigg","year":"2015","journal-title":"Am. J. Hum. 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University College of London, London, England, UK."},{"key":"2023072603533369800_bib60","doi-asserted-by":"publisher","first-page":"21214","DOI":"10.1074\/jbc.C110.129502","article-title":"Crystal structure of the entire ectodomain of gp130: insights into the molecular assembly of the tall cytokine receptor complexes","volume":"285","author":"Xu","year":"2010","journal-title":"J. Biol. Chem."},{"key":"2023072603533369800_bib61","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1073\/pnas.93.1.407","article-title":"Targeted disruption of gp130, a common signal transducer for the interleukin 6 family of cytokines, leads to myocardial and hematological disorders","volume":"93","author":"Yoshida","year":"1996","journal-title":"Proc. Natl. Acad. Sci. 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