Heterozygous gain-of-function mutations in the IFIH1 gene underlie a spectrum of autoinflammatory phenotypes including Aicardi–Goutières syndrome type 7 (AGS7) [1, 2] and Singleton-Merten syndrome type 1 (SGMRT1) [3]. The gene discussed is IFIH1; the disease is Aicardi-Goutieres syndrome 7.