Journal
JOURNAL OF EXPERIMENTAL MEDICINE
Volume 216, Issue 9, Pages 1986-1998Publisher
ROCKEFELLER UNIV PRESS
DOI: 10.1084/jem.20190344
Keywords
-
Categories
Funding
- Medical Research Council [RG95376, MR/L006197/1, MR/L019027]
- European Research Council [ERC StG 310857]
- Austrian Science Fund [P29951-B30]
- National Institute of Allergy and Infectious Diseases, NIH [1ZIAAI001098-02]
- Wellcome Trust [104807/Z/14/Z]
- NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust
- University College London
- Cancer Research UK
- Austrian Academy of Sciences
- NIHR in England
- British Heart Foundation
- NHS England
- MRC [MR/L019027/1, MR/L006197/1, MC_EX_MR/S300011/1] Funding Source: UKRI
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [ZIAAI001122] Funding Source: NIH RePORTER
- Austrian Science Fund (FWF) [P29951] Funding Source: Austrian Science Fund (FWF)
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available