S Spencer, S Köstel Bal, W Egner, H Lango Allen, SI Raza, CA Ma, M Gürel, Y Zhang, G Sun, RA Sabroe, D Greene, W Rae, T Shahin, K Kania, RC Ardy, M Thian, E Staples, A Pecchia-Bekkum, WPM Worrall, J Stephens, M Brown, S Tuna, M York, F Shackley, D Kerrin, R Sargur, A Condliffe, HN Tipu, HS Kuehn, SD Rosenzweig, E Turro, S Tavaré, AJ Thrasher, DI Jodrell, KGC Smith, K Boztug, JD Milner, JED Thaventhiran
Journal name: 
J Exp Med
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.
Research group: 
Jodrell Group, Tavaré Group
E-pub date: 
31 May 2019
Users with this publication listed: 
Duncan Jodrell
Simon Tavaré