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Genetic interferonopathies: An overview

Eleftheriou, D; Brogan, PA; (2017) Genetic interferonopathies: An overview. Best Practice and Research: Clinical Rheumatology , 31 (4) pp. 441-459. 10.1016/j.berh.2017.12.002. Green open access

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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.

Type: Article
Title: Genetic interferonopathies: An overview
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.berh.2017.12.002
Publisher version: http://dx.doi.org/10.1016/j.berh.2017.12.002
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Interferonopathies, Aicardi-Goutières syndrome, Proteasome, CANDLESAVI
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10042070
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