Genetic interferonopathies: An overview. Issue 4 (August 2017)

• Record Type: Journal Article
• Authors: Eleftheriou, Despina; Brogan, Paul A.
• Is Part Of: Best practice & research. Volume 31:Issue 4(2017:Aug.)
• Page Start: 441
• Page End: 459
• Publication Date: 2017-08
• Subjects: Interferonopathies -- Aicardi-Goutières syndrome -- Proteasome -- CANDLE -- SAVI; Rheumatology -- Periodicals; Rheumatic Diseases -- Periodicals; Reumatologie; 616.723005
• DOI: 10.1016/j.berh.2017.12.002
• Languages: English
• ISSNs: 1521-6942

Abstract

Abstract: Interferonopathies comprise an expanding group of monogenic diseases characterised by disturbance of the homeostatic control of interferon (IFN)-mediated immune responses. Although differing in the degree of phenotypic expression and severity, the clinical presentation of these diseases shows a considerable degree of overlap, reflecting their common pathogenetic mechanisms. Increased understanding of the molecular basis of these Mendelian disorders has led to the identification of targeted therapies for these diseases, which could also be of potential relevance for non-genetic IFN-mediated diseases such as systemic lupus erythematosus and juvenile dermatomyositis. In this paper, we summarise the current knowledge of the molecular basis, clinical features and the treatment available for monogenic interferonopathies.