Neonatal onset Aicardi-Goutières syndrome with congenital corneal edema, expanding the phenotype

• Main Authors: Romit Jain (Author), Siva Narayana Reddy (Author), Sai Sankeerth Rao Koneru (Author), Ramesh Konanki (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Type I interferonopathy is a group of autoinflammatory disorders associated with enhanced type I interferon levels, due to upregulation of activation mechanisms or downregulation of negative feedback. Aicardi-Goutières syndrome (AGS) is one of these conditions, characterized by encephal...