A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

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 recu...

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Bibliographic Details
Main Authors: Schwerd, T, Twigg, SRF, Aschenbrenner, D, Manrique, S, Miller, KA, Taylor, IB, Capitani, M, McGowan, SJ, Sweeney, E, Weber, A, Chen, L, Bowness, P, Riordan, A, Cant, A, Freeman, AF, Milner, JD, Holland, SM, Frede, N, Müller, M, Schmidt-Arras, D, Grimbache, B, Wall, SA, Jones, EY, Wilkie, AOM, Uhlig, HH
Format: Journal article
Published: Rockefeller University Press 2017

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