DOCK11 deficiency-related immune dysregulation leading to paediatric acute liver failure

Even after a thorough workup, aetiology remains indeterminate in a majority of paediatric acute liver failure cases. Whole exome sequencing (WES) by next-generation sequencing has helped in identifying aetiology in such cases. Autoinflammatory disorders and disorders of immune dysregulation are evolving causes of acute liver failure. Here, we present a case of a young child who presented with acute liver failure and was diagnosed to have DOCK11 deficiency on WES. The child improved with symptomatic treatment. DOCK11 deficiency is a multisystem autoinflammatory disease that may present as acute liver failure.