1.
J Exp Med
; 216(9): 1986-1998, 2019 09 02.
Article
in English
| MEDLINE
| ID: mdl-31235509
ABSTRACT
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.
Subject(s)
Immunologic Deficiency Syndromes/pathology , Inflammation/pathology , Receptors, Interleukin-6/deficiency , Adolescent , Adult , Child , Child, Preschool , Female , HEK293 Cells , Humans , Infant, Newborn , Male , Receptors, Interleukin-6/metabolism
2.
J Allergy Clin Immunol Pract
; 6(1): 272-273, 2018.
Article
in English
| MEDLINE
| ID: mdl-28803181