Aicardi-Goutières syndrome (AGS) is a family of genetic conditions, most often inherited in an autosomal recessive fashion, known as interferonopathies. AGS occurs due to a failure to degrade RNA or DNA, resulting in accumulation of nucleic acid proteins that cause an inflammatory cascade.

Patients often present early in life but can present in a delayed fashion with fevers, vasculopathy, chilblain skin lesions, impaired immune function, bone abnormalities, and symptoms of central nervous system inflammation. Most patients will present within the first few weeks of life after a brief period of normal development. Children most commonly present with early onset encephalopathy with significant physical and intellectual disability. Neurologic presentation may also include seizures, irritability, cognitive impairment, deceleration of head growth, and basal ganglia calcifications.

Multiple genetic causes have been identified. The condition can be fatal or may result in a persistent vegetative state.