1.
J Exp Med
; 216(9): 1986-1998, 2019 09 02.
Artículo
en Inglés
| MEDLINE
| ID: mdl-31235509
RESUMEN
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.
Asunto(s)
Síndromes de Inmunodeficiencia/patología , Inflamación/patología , Receptores de Interleucina-6/deficiencia , Adolescente , Adulto , Niño , Preescolar , Femenino , Células HEK293 , Humanos , Recién Nacido , Masculino , Receptores de Interleucina-6/metabolismo
2.
J Allergy Clin Immunol Pract
; 6(1): 272-273, 2018.
Artículo
en Inglés
| MEDLINE
| ID: mdl-28803181