Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

S Spencer, S Köstel Bal, W Egner… - Journal of Experimental …, 2019 - rupress.org
S Spencer, S Köstel Bal, W Egner, H Lango Allen, SI Raza, CA Ma, M Gürel, Y Zhang, G Sun…
Journal of Experimental Medicine, 2019rupress.org
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 …
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.
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