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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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Rockefeller University Press
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584118/ https://www.ncbi.nlm.nih.gov/pubmed/28747427 http://dx.doi.org/10.1084/jem.20161810 |
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| author | 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. |
| author_facet | 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. |
| author_sort | Schwerd, Tobias |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-5584118 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | The Rockefeller University Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-55841182017-09-10 A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis 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. J Exp Med Research Articles 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. The Rockefeller University Press 2017-09-04 /pmc/articles/PMC5584118/ /pubmed/28747427 http://dx.doi.org/10.1084/jem.20161810 Text en © 2017 Schwerd et al. https://creativecommons.org/licenses/by/4.0/This article is available under a Creative Commons License (Attribution 4.0 International, as described at https://creativecommons.org/licenses/by/4.0/). |
| spellingShingle | Research Articles 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. A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title | A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title_full | A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title_fullStr | A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title_full_unstemmed | A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title_short | A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title_sort | biallelic mutation in il6st encoding the gp130 co-receptor causes immunodeficiency and craniosynostosis |
| topic | Research Articles |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584118/ https://www.ncbi.nlm.nih.gov/pubmed/28747427 http://dx.doi.org/10.1084/jem.20161810 |
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