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Article

Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome.

Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research - 1 Apr 2017

Wang Ben X, Grover Stephanie A, Kannu Peter, Yoon Grace, Laxer Ronald M, Yeh E Ann, Fish Eleanor N

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is an early-onset, genetic disease characterized by recurrent fever, multifocal lesions of the brain, and systemic autoimmunity. We report on 3 AGS patients, 2 siblings with an RNASEH2A gene mutation and 1 patient with a SAMHD1 gene mutation. Serial analysis of peripheral blood from all 3 AGS patients showed consistently elevated expression of the interferon-stimulated genes...

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Source

Identifiers

PMID: 28387595
DOI: 10.1089/jir.2016.0117

Genes

SAMHD1
IFI27
ISG15
RSAD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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