Literature DB >> 29773266

Genetic interferonopathies: An overview.

Despina Eleftheriou1, Paul A Brogan2.   

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.
Copyright © 2017 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Aicardi-Goutières syndrome; CANDLE; Interferonopathies; Proteasome; SAVI

Mesh:

Substances:

Year:  2018        PMID: 29773266     DOI: 10.1016/j.berh.2017.12.002

Source DB:  PubMed          Journal:  Best Pract Res Clin Rheumatol        ISSN: 1521-6942            Impact factor:   4.098


  14 in total

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