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Intracellular virus sensor MDA5 mutation develops autoimmune myocarditis and nephritis.

Journal of autoimmunity - 1 Feb 2022

Ohto Taisuke, Tayeh Ahmed Abu, Nishikomori Ryuta, Abe Hiroto, Hashimoto Kyota, Baba Shiro, Arias-Loza Anahi-Paula, Soda Nobumasa, Satoh Saya, Matsuda Masashi, Iizuka Yusuke, Kondo Takashi, Koseki Haruhiko, Yan Nan, Higuchi Takahiro, Fujita Takashi, Kato Hiroki

Abstract excerpt

Mutations in IFIH1 gene encoding viral RNA sensor MDA5 have been reported responsible for many interferonopathies, including Aicardi-Goutières syndrome (AGS) and monogenic lupus, however, the pathological link between IFIH1 mutations and various autoimmune symptoms remains unclear. Here, we generated transgenic mice expressing human MDA5 R779H mutant (R779H Tg), reported in AGS and monogenic lupus patient. Mice...

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Identifiers

PMID: 35168003
DOI: 10.1016/j.jaut.2022.102794

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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