Clinical case of Aicardi–Goutières syndrome type 6

Primary immunodeficiencies are a group of heterogeneous diseases caused by genetic deficiency of one or another component of the immune system. Due to the lack of focus of doctors on primary immunodeficiencies in patients and the phenotypic heterogeneity of nosologies included in this group, a high percentage of undiagnosed cases are determined. A genetic cause is detected only in about 30% of patients, and most of them do not have an obvious family history. Aicardi–Goutieres syndrome is a rare monogenic autoimmune disease that primarily affects the brain in children and is caused by mutations in one of the 9 genes responsible for nucleic acid metabolism and is accompanied by increased expression of interferon-stimulated genes (interferonopathy type I). In particular, in Aicardi–Goutieres syndrome type 6 (AGS6, OMIM 615010), a mutation in the ADAR gene (locus 1q21.3) leads to the recognition of unedited double-stranded RNA with the initiation of an interferon synthesis reaction. The article presents a clinical case of AGS6 syndrome, OMIM 615010, diagnosed posthumously in a 12-year-old boy.