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...

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發表在:J Exp Med
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: Rockefeller University Press 2019
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Research Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6719421/
https://ncbi.nlm.nih.gov/pubmed/31235509
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20190344
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