Aicardi-Goutières syndrome (AGS1-9) is a genetically determined encephalopathy that falls
under the type I interferonopathy disease class, characterized by excessive type I interferon …

In humans, loss of function mutations in the SAMHD1 (AGS5) gene cause a severe form of
Aicardi-Goutières syndrome (AGS), an inherited inflammatory-mediated encephalopathy …

Abstract The autoimmune disorder Aicardi-Goutières syndrome (AGS) is characterized by a
constitutive type I interferon response. SAMHD1 possesses both dNTPase and RNase …

Aicardi–Goutières syndrome (AGS) is a monogenic inflammatory encephalopathy caused by
mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or MDA5 …

Germline mutations in the human SAMHD1 gene cause the development of Aicardi-
Goutières Syndrome (AGS), with a dominant feature being increased systemic type I …

Aicardi–Goutières syndrome (AGS) is a congenital inflammatory disorder accompanied by
overactivated type I IFN signaling and encephalopathy with leukodystrophy and intracranial …

Exome sequencing is increasingly being used to help diagnose pediatric neurology cases
when clinical presentations are not specific. However, interpretation of equivocal results that …

Abstract Background Aicardi–Goutières syndrome (AGS) is a severe neurodegenerative
disease with clinical features of early-onset encephalopathy and progressive loss of …

Abstract Aicardi-Goutières Syndrome (AGS) is a rare neuro-inflammatory disease
characterized by increased expression of interferon-stimulated genes (ISGs). Disease …

Type I interferonopathies are a heterogenic group of rare diseases associated with an
increase in type I interferon (IFN). The main challenge for the study of Type I …