Interferonopathy

An interferonopathy is a class of autoinflammatory disease caused by dysregulated, constitutive activation of type I interferon signaling in the absence of infection. Many monogenic interferonopathies — including Aicardi-Goutières syndrome, STING-associated vasculopathy with onset in infancy (SAVI), and COPA syndrome — arise from mutations that either generate excess immunostimulatory self-DNA or lock the cGAS-STING pathway into a constitutively active state, leading to chronic, tissue-damaging inflammation.