As brutally demonstrated by the COVID-19 pandemic, an effective immune system is
essential for survival. Developed over evolutionary time, viral nucleic acid detection is a …

Dissection of the genetic basis of Aicardi–Goutières syndrome has highlighted a
fundamental link between nucleic acid metabolism, innate immune sensors and type I …

Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 …

Detection of nucleic acids and induction of type I interferons (IFNs) are principal elements of
antiviral defense but can cause autoimmunity if misregulated. Cytosolic DNA detection …

Notable advances in gene sequencing methods in recent years have permitted enormous
progress in the phenotypic and genotypic characterization of autoinflammatory syndromes …

Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows
overlap with systemic lupus erythematosus at both a clinical and biochemical level. The …

Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a
genetic mimic of the sequelae of transplacentally acquired viral infection,. Evidence exists …

The concept of grouping Mendelian disorders associated with an upregulation of type I
interferon is not currently recognized in the medical literature. Here, we argue that such a …

Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the
clinical and immunological features of which parallel those of congenital viral infection. Here …

Type I interferon is a potent substance. As such, the induction, transmission, and resolution
of the type I interferon–mediated immune response are tightly regulated. As defined, the type …