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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Detalhes bibliográficos
Publicado no:J Exp Med
Main Authors: 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., Uhlig, Holm H.
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 2017
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5584118/
https://ncbi.nlm.nih.gov/pubmed/28747427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20161810
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