RNase H2 is a susceptibility gene for the Aicardi–Goutières syndrome (AGS), a genetic auto‐inflammatory disease. Mackenzie and colleagues now report a tractable mouse model for the disease, implicating the cGAS‐STING pathway.
See also: KJ Mackenzie et al
The auto‐inflammatory genetic disease termed Aicardi–Goutières syndrome (AGS) is characterized by an increased expression of interferon‐stimulated genes (ISG) and is now considered an interferonopathy (Crow & Manel, 2015). Mackenzie and colleagues report the generation of a new mouse model for AGS mutations in Rnaseh2b, and leverage it to provide mechanistic insights into the disease (Fig 1) (Mackenzie et al, 2016).
Diseases of the immune system remain a considerable challenge. Effective immune responses are impaired in genetic disorders such as SCIDs, and ineffective immune responses prevent the control of microbes such as HIV. On the flipside, unchecked immune responses are responsible for pathologies such as lupus. A fascinating aspect of the immune system is that it is—by essence—shaped through interactions between genes, cells, environment, and microbes. In AGS, genetic …
Subscribers, please sign in with your username and password.