Inherited IL-18BP deficiency in human fulminant viral hepatitis

Fulminant viral hepatitis is a rare, extremely severe organ-specific viral disease that strikes otherwise healthy individuals upon primary infection by liver-tropic viruses, such as hepatitis A virus or hepatitis B virus. Its pathogenesis is unclear with a very poor chance of survival without liver transplantation. We studied a child who died of fulminant liver failure following infection by hepatitis A virus by whole exome sequencing and detailed functional studies.