Fig. 17

Loss-of-function mutations in immunoproteasome components PSMB8, PSMB4, PSMA3, PSMB9, or proteasome maturation protein (POMP) in patients with PRAAS/NNS/CANDLE. Loss-of-function mutation in immunoproteasome components such as PSMB8, PSMB4, PSMA3, PSMB9, or proteasome maturation protein (POMP) leads to increased secretion of type I IFN by immune cells