MDA5 and autoimmune disease

Jonathan J. Miner; Michael S. Diamond

doi:10.1038/ng.2959

MDA5 and autoimmune disease

Jonathan J. Miner
, Michael S. Diamond

Research output: Contribution to journal › Review article › peer-review

22 Scopus citations

Abstract

A new study shows that gain-of-function mutations in IFIH1, which encodes the cytosolic double-stranded RNA sensor MDA5, lead to upregulated type I interferon responses. Individuals with these mutations exhibit phenotypes consistent with autoimmune diseases, including Aicardi-Goutières syndrome and systemic lupus erythematosus.

Original language	English
Pages (from-to)	418-419
Number of pages	2
Journal	Nature Genetics
Volume	46
Issue number	5
DOIs	https://doi.org/10.1038/ng.2959
State	Published - May 2014

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title = "MDA5 and autoimmune disease",

abstract = "A new study shows that gain-of-function mutations in IFIH1, which encodes the cytosolic double-stranded RNA sensor MDA5, lead to upregulated type I interferon responses. Individuals with these mutations exhibit phenotypes consistent with autoimmune diseases, including Aicardi-Gouti{\`e}res syndrome and systemic lupus erythematosus.",

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AU - Miner, Jonathan J.

AU - Diamond, Michael S.

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AB - A new study shows that gain-of-function mutations in IFIH1, which encodes the cytosolic double-stranded RNA sensor MDA5, lead to upregulated type I interferon responses. Individuals with these mutations exhibit phenotypes consistent with autoimmune diseases, including Aicardi-Goutières syndrome and systemic lupus erythematosus.

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DO - 10.1038/ng.2959

M3 - Review article

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JO - Nature Genetics

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MDA5 and autoimmune disease

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