Aicardi-Goutières syndrome
What are the causes?
At the moment we do not know how changes in TREX1 and the RNASEH2 complex cause AGS. These genes make chemicals called nucleases which break down DNA and RNA. During the normal life-cycle of our cells, nucleases clean up naturally produced waste DNA and RNA. A failure of this process can induce the body to mount an immune reaction against its own DNA and RNA. A similar immune reaction is seen in response to viral DNA and RNA following an infection. This would explain why the clinical features of AGS and viral infection overlap and why we see high levels of the anti-viral agent interferon-alpha in children with AGS.
What are the symptoms?
| Inheritance patterns and prenatal diagnosis ![]()