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Article

Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome.

Clinical immunology (Orlando, Fla.) - 1 Apr 2023

Garau Jessica, Charras Amandine, Varesio Costanza, Orcesi Simona, Dragoni Francesca, Galli Jessica, Fazzi Elisa, Gagliardi Stella, Pansarasa Orietta, Cereda Cristina, Hedrich Christian M

Abstract excerpt

Aicardi-Goutières Syndrome (AGS) is a rare neuro-inflammatory disease characterized by increased expression of interferon-stimulated genes (ISGs). Disease-causing mutations are present in genes associated with innate antiviral responses. Disease presentation and severity vary, even between patients with identical mutations from the same family. This study investigated DNA methylation signatures in PBMCs to...

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PMID: 36963449
DOI: 10.1016/j.clim.2023.109299

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