Dr Mariko Bennett and Dr Laura Adang discuss the precarious balance between a protective and a destructive immune response, as is seen in inborn errors in nucleotide metabolism. Our discussion focuses on the most common of these disorders: Aicardi Goutières syndrome (AGS). Sadly, despite the many gains in understanding about AGS, there remain many gaps in our understanding of this condition.

Nucleotide metabolism, leukodystrophies, and CNS pathology

Francesco Gavazzi, et al

https://doi.org/10.1002/jimd.12721