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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted in clinical practice by immunotherapy that blocks the IL-6 receptor encoded by IL6R. We describe two patients with homozygous mutations in IL6R who presented with recurrent infections, abnormal acute-phase...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Rockefeller University Press
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719421/ https://www.ncbi.nlm.nih.gov/pubmed/31235509 http://dx.doi.org/10.1084/jem.20190344 |
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| author | Spencer, Sarah Köstel Bal, Sevgi Egner, William Lango Allen, Hana Raza, Syed I. Ma, Chi A. Gürel, Meltem Zhang, Yuan Sun, Guangping Sabroe, Ruth A. Greene, Daniel Rae, William Shahin, Tala Kania, Katarzyna Ardy, Rico Chandra Thian, Marini Staples, Emily Pecchia-Bekkum, Annika Worrall, William P.M. Stephens, Jonathan Brown, Matthew Tuna, Salih York, Melanie Shackley, Fiona Kerrin, Diarmuid Sargur, Ravishankar Condliffe, Alison Tipu, Hamid Nawaz Kuehn, Hye Sun Rosenzweig, Sergio D. Turro, Ernest Tavaré, Simon Thrasher, Adrian J. Jodrell, Duncan Ian Smith, Kenneth G.C. Boztug, Kaan Milner, Joshua D. Thaventhiran, James E.D. |
| author_facet | Spencer, Sarah Köstel Bal, Sevgi Egner, William Lango Allen, Hana Raza, Syed I. Ma, Chi A. Gürel, Meltem Zhang, Yuan Sun, Guangping Sabroe, Ruth A. Greene, Daniel Rae, William Shahin, Tala Kania, Katarzyna Ardy, Rico Chandra Thian, Marini Staples, Emily Pecchia-Bekkum, Annika Worrall, William P.M. Stephens, Jonathan Brown, Matthew Tuna, Salih York, Melanie Shackley, Fiona Kerrin, Diarmuid Sargur, Ravishankar Condliffe, Alison Tipu, Hamid Nawaz Kuehn, Hye Sun Rosenzweig, Sergio D. Turro, Ernest Tavaré, Simon Thrasher, Adrian J. Jodrell, Duncan Ian Smith, Kenneth G.C. Boztug, Kaan Milner, Joshua D. Thaventhiran, James E.D. |
| author_sort | Spencer, Sarah |
| collection | PubMed |
| description | IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted in clinical practice by immunotherapy that blocks the IL-6 receptor encoded by IL6R. We describe two patients with homozygous mutations in IL6R who presented with recurrent infections, abnormal acute-phase responses, elevated IgE, eczema, and eosinophilia. This study identifies a novel primary immunodeficiency, clarifying the contribution of IL-6 to the phenotype of patients with mutations in IL6ST, STAT3, and ZNF341, genes encoding different components of the IL-6 signaling pathway, and alerts us to the potential toxicity of drugs targeting the IL-6R. |
| format | Online Article Text |
| id | pubmed-6719421 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Rockefeller University Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-67194212019-09-17 Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses Spencer, Sarah Köstel Bal, Sevgi Egner, William Lango Allen, Hana Raza, Syed I. Ma, Chi A. Gürel, Meltem Zhang, Yuan Sun, Guangping Sabroe, Ruth A. Greene, Daniel Rae, William Shahin, Tala Kania, Katarzyna Ardy, Rico Chandra Thian, Marini Staples, Emily Pecchia-Bekkum, Annika Worrall, William P.M. Stephens, Jonathan Brown, Matthew Tuna, Salih York, Melanie Shackley, Fiona Kerrin, Diarmuid Sargur, Ravishankar Condliffe, Alison Tipu, Hamid Nawaz Kuehn, Hye Sun Rosenzweig, Sergio D. Turro, Ernest Tavaré, Simon Thrasher, Adrian J. Jodrell, Duncan Ian Smith, Kenneth G.C. Boztug, Kaan Milner, Joshua D. Thaventhiran, James E.D. J Exp Med Research Articles IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted in clinical practice by immunotherapy that blocks the IL-6 receptor encoded by IL6R. We describe two patients with homozygous mutations in IL6R who presented with recurrent infections, abnormal acute-phase responses, elevated IgE, eczema, and eosinophilia. This study identifies a novel primary immunodeficiency, clarifying the contribution of IL-6 to the phenotype of patients with mutations in IL6ST, STAT3, and ZNF341, genes encoding different components of the IL-6 signaling pathway, and alerts us to the potential toxicity of drugs targeting the IL-6R. Rockefeller University Press 2019-09-02 2019-06-24 /pmc/articles/PMC6719421/ /pubmed/31235509 http://dx.doi.org/10.1084/jem.20190344 Text en © 2019 Crown copyright. The government of Australia, Canada, or the UK ("the Crown") owns the copyright interests of authors who are government employees. The Crown Copyright is not transferable. 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 Spencer, Sarah Köstel Bal, Sevgi Egner, William Lango Allen, Hana Raza, Syed I. Ma, Chi A. Gürel, Meltem Zhang, Yuan Sun, Guangping Sabroe, Ruth A. Greene, Daniel Rae, William Shahin, Tala Kania, Katarzyna Ardy, Rico Chandra Thian, Marini Staples, Emily Pecchia-Bekkum, Annika Worrall, William P.M. Stephens, Jonathan Brown, Matthew Tuna, Salih York, Melanie Shackley, Fiona Kerrin, Diarmuid Sargur, Ravishankar Condliffe, Alison Tipu, Hamid Nawaz Kuehn, Hye Sun Rosenzweig, Sergio D. Turro, Ernest Tavaré, Simon Thrasher, Adrian J. Jodrell, Duncan Ian Smith, Kenneth G.C. Boztug, Kaan Milner, Joshua D. Thaventhiran, James E.D. Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses |
| title | Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses |
| title_full | Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses |
| title_fullStr | Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses |
| title_full_unstemmed | Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses |
| title_short | Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses |
| title_sort | loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses |
| topic | Research Articles |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719421/ https://www.ncbi.nlm.nih.gov/pubmed/31235509 http://dx.doi.org/10.1084/jem.20190344 |
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