Moreover, there is a significant clinical and neuroradiological overlap of RNaseT2-deficient CLE with Aicardi-Goutières syndrome (AGS), with some affected individuals demonstrating cerebrospinal fluid (CSF) pleocytosis, elevated levels of CSF neopterin as an inflammatory marker, and an overexpression of interferon-stimulated genes (ISGs) in peripheral blood3. This evidence concerns the gene RNASET2 and Aicardi-Goutieres syndrome.