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dc.contributor.authorSchwerd, T
dc.contributor.authorTwigg, SRF
dc.contributor.authorAschenbrenner, D
dc.contributor.authorManrique, S
dc.contributor.authorMiller, KA
dc.contributor.authorTaylor, IB
dc.contributor.authorCapitani, M
dc.contributor.authorMcGowan, SJ
dc.contributor.authorSweeney, E
dc.contributor.authorWeber, A
dc.contributor.authorChen, L
dc.contributor.authorBowness, P
dc.contributor.authorRiordan, A
dc.contributor.authorCant, A
dc.contributor.authorFreeman, AF
dc.contributor.authorMilner, JD
dc.contributor.authorHolland, SM
dc.contributor.authorFrede, N
dc.contributor.authorMüller, M
dc.contributor.authorSchmidt-Arras, D
dc.contributor.authorGrimbacher, B
dc.contributor.authorWall, SA
dc.contributor.authorJones, EY
dc.contributor.authorWilkie, AOM
dc.contributor.authorUhlig, HH
dc.date.accessioned2020-12-21T03:37:55Z
dc.date.available2020-12-21T03:37:55Z
dc.date.issued2017-09-04
dc.identifierpii: jem.20161810
dc.identifier.citationSchwerd, 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.
dc.identifier.issn0022-1007
dc.identifier.urihttp://hdl.handle.net/11343/257287
dc.description.abstractMultiple 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.
dc.languageeng
dc.publisherRockefeller University Press
dc.titleA biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
dc.typeJournal Article
dc.identifier.doi10.1084/jem.20161810
melbourne.affiliation.departmentPaediatrics (RCH)
melbourne.source.titleJournal of Experimental Medicine
melbourne.source.volume214
melbourne.source.issue9
melbourne.source.pages2547-2562
dc.rights.licenseCC BY
melbourne.elementsid1257297
melbourne.openaccess.pmchttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584118
melbourne.contributor.authorMiller, Kerry
dc.identifier.eissn1540-9538
melbourne.accessrightsOpen Access


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