The patient had 2 variants in the ribonuclease H2 subunits B (RNASEH2B) gene (NM_024570: c.179T>G, p.Leu60Arg; and c.529G>A, p.Ala177Thr) linked to Aicardi-Goutières syndrome type 2.23,24 Other family members are currently undergoing genetic screening, and treatment with oral Janus kinase 1 and 2 inhibition is currently being considered.25,26. This evidence concerns the gene JAK1 and Aicardi-Goutieres syndrome 2.