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Therapies in Aicardi-Goutières syndrome.
Crow, Y J; Vanderver, A; Orcesi, S; Kuijpers, T W; Rice, G I.
Afiliación
  • Crow YJ; Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Clin Exp Immunol ; 175(1): 1-8, 2014 Jan.
Article en En | MEDLINE | ID: mdl-23607857
Aicardi-Goutières syndrome (AGS) is a genetically determined disorder, affecting most particularly the brain and the skin, characterized by the inappropriate induction of a type I interferon-mediated immune response. In most, but not all, cases the condition is severe, with a high associated morbidity and mortality. A number of important recent advances have helped to elucidate the biology of the AGS-related proteins, thus providing considerable insight into disease pathology. In this study, we outline the clinical phenotype of AGS, paying particular attention to factors relevant to therapeutic intervention. We then discuss the pathogenesis of AGS from a molecular and cell biology perspective. Finally, we suggest possible treatment strategies in light of these emerging insights.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes del Sistema Nervioso / Malformaciones del Sistema Nervioso Límite: Humans Idioma: En Revista: Clin Exp Immunol Año: 2014 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes del Sistema Nervioso / Malformaciones del Sistema Nervioso Límite: Humans Idioma: En Revista: Clin Exp Immunol Año: 2014 Tipo del documento: Article Pais de publicación: Reino Unido