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

• Hoofdauteurs: Romit Jain (Auteur), Siva Narayana Reddy (Auteur), Sai Sankeerth Rao Koneru (Auteur), Ramesh Konanki (Auteur)
• Formaat: Boek
• Gepubliceerd in: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...