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T Schwerd, SRF Twigg, D Aschenbrenner, S Manrique, KA Miller, IB Taylor, M Capitani, SJ McGowan, E Sweeney, A Weber, L Chen, P Bowness, A Riordan, A Cant, AF Freeman, JD Milner, SM Holland, N Frede, M Müller, D Schmidt-Arras, B Grimbacher, SA Wall, EY Jones, AOM Wilkie and HH Uhlig
Abstract
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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Concepts
Glycoprotein 130, Interleukin, Point mutation, Oncostatin M, Interleukin 6, Mutation, Cytokines, Immune system
MeSH headings
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