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Article

The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.

Immunological reviews - 1 Oct 2024

Hofer Markus J, Modesti Nicholson, Coufal Nicole G, Wang Qingde, Sase Sunetra, Miner Jonathan J, Vanderver Adeline, Bennett Mariko L

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is a progressive genetic encephalopathy caused by pathogenic mutations in genes controlling cellular anti-viral responses and nucleic acid metabolism. The mutations initiate autoinflammatory processes in the brain and systemically that are triggered by chronic overproduction of type I interferon (IFN), including IFN-alpha. Emerging disease-directed therapies aim to dampen...

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Identifiers

PMID: 39473130
DOI: 10.1111/imr.13413
PMCID: PMC11672868

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