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Article

Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.

Journal of immunology (Baltimore, Md. : 1950) - 15 Apr 2015

Cuadrado Eloy, Michailidou Iliana, van Bodegraven Emma J, Jansen Machiel H, Sluijs Jacqueline A, Geerts Dirk, Couraud Pierre-Olivier, De Filippis Lidia, Vescovi Angelo L, Kuijpers Taco W, Hol Elly M

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is a monogenic inflammatory encephalopathy caused by mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or MDA5. Mutations in those genes affect normal RNA/DNA intracellular metabolism and detection, triggering an autoimmune response with an increase in cerebral IFN-α production by astrocytes. Microangiopathy and vascular disease also contribute to the neuropathology...

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Source

Identifiers

PMID: 25769924
DOI: 10.4049/jimmunol.1401334

Genes

TREX1
SAMHD1
CCL5
CXCL10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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