Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2017 Aug;31(4):441-459.
doi: 10.1016/j.berh.2017.12.002. Epub 2018 Feb 1.

Genetic interferonopathies: An overview

Despina Eleftheriou  1 , Paul A Brogan  2
Affiliations
Review

Genetic interferonopathies: An overview

Despina Eleftheriou et al. Best Pract Res Clin Rheumatol. 2017 Aug.

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.

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

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

Substances

LinkOut - more resources