A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
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Date
2017-09-04Source Title
Journal of Experimental MedicinePublisher
Rockefeller University PressAffiliation
Paediatrics (RCH)Metadata
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Schwerd, T., Twigg, S. R. F., Aschenbrenner, D., Manrique, S., Miller, K. A., Taylor, I. B., Capitani, M., McGowan, S. J., Sweeney, E., Weber, A., Chen, L., Bowness, P., Riordan, A., Cant, A., Freeman, A. F., Milner, J. D., Holland, S. M., Frede, N., Müller, M. ,... Uhlig, H. H. (2017). A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.. J Exp Med, 214 (9), pp.2547-2562. https://doi.org/10.1084/jem.20161810.Access Status
Open AccessOpen Access at PMC
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584118Abstract
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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