Siglec1 (Cd169) As A Potential Diagnostical Screening Marker For Monogenic Interferonopathies

Aicardi Goutieres syndrome (AGS) is an autosomal recessive disorder characterized by severe pre- and postnatal occurring neurological symptoms, e.g. spasticity, dystonia and psychomotoric retardation, abnormalities in cerebrospinal fluid and specific alterations in neuroimaging, e.g. calcification of basal ganglia, white matter degeneration and brain atrophy(1). Successively, disease-causing mutations within genes involved in nucleic acid metabolism (TREX1, RNASEH2A/B/C, SAMHD1, ADAR1), or signaling (IFIH1) were identified.