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Schwerd, Tobias; Twigg, Stephen R. F.; Aschenbrenner, Dominik; Manrique, Santiago; Miller, Kerry A.; Taylor, Indira B.; Capitani, Melania; McGowan, Simon J.; Sweeney, Elizabeth; Weber, Astrid; Chen, Liye; Bowness, Paul; Riordan, Andrew; Cant, Andrew; Freeman, Alexandra F.; Milner, Joshua D.; Holland, Steven M.; Frede, Natalie; Müller, Miryam; Schmidt-Arras, Dirk; Grimbacher, Bodo; Wall, Steven A.; Jones, E. Yvonne; Wilkie, Andrew O. M. and Uhlig, Holm H. (2017): A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. In: Journal of Experimental Medicine, Vol. 214, No. 9: pp. 2547-2562

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Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130 cytokine receptor subunit. 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. This study identifies a novel immunodeficiency with phenotypic similarities to STAT3 hyper-IgE syndrome caused by loss of function of GP130.

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