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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2019
Materias:
Research Articles
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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