Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
Leslie NaesensJosephine NemegeerFilip RoelensLore VallaeysMarije MeuwissenKatrien JanssensPatrick VerlooBenson OgunjimiDimitri Hemelsoetnull nullLevi HosteLisa RoelsMarieke De BruyneElfride De BaereJo Van DorpeAmélie DendoovenAnne SiebenGillian I RiceTessa KerreRudi BeyaertCarolina UggentiYanick J CrowSimon J TavernierJonathan MaelfaitFilomeen HaerynckPublished in: Journal of clinical immunology (2022)
Targeted RNU7-1 sequencing is recommended in genetically unexplained AGS cases. CSF cytokine profiling represents an additional diagnostic tool to identify aberrant IFN-I signaling. Clinical follow-up of RNU7-1-mutated patients should include screening for severe end-organ involvement including liver disease and nephropathy.