title: Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation.
abstract: Acute liver failure is a rare heterogeneous syndrome in neonates. We report of a newborn with haemophagocytic lymphohistiocytosis presenting as acute liver failure. Pancytopenia and multi-organ failure occurred later in the course. He carried two mutations of the perforin gene (PRF-1), one of which not previously described, causing a complete loss of perforin expression and natural killer cell function.
  
  
  CONCLUSIONS
  Perforin expression and function should be promptly assessed in neonatal/infantile acute liver failure, as haemophagocytic lymphohistiocytosis requires specific treatment and represents a contra-indication to liver transplant.
authors.affiliation: Department of Neonatology, Bambino Gesù Children's Hospital, Rome, ItalyHematology Unit, Bambino Gesù Children's Hospital, Rome, ItalyMedical Pathology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: O
authors.initials: O
authors.lastname: Danhaive
authors.affiliation: Department of Neonatology, Bambino Gesù Children's Hospital, Rome, ItalyHematology Unit, Bambino Gesù Children's Hospital, Rome, ItalyMedical Pathology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Caniglia
authors.affiliation: Department of Neonatology, Bambino Gesù Children's Hospital, Rome, ItalyHematology Unit, Bambino Gesù Children's Hospital, Rome, ItalyMedical Pathology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Devito
authors.affiliation: Department of Neonatology, Bambino Gesù Children's Hospital, Rome, ItalyHematology Unit, Bambino Gesù Children's Hospital, Rome, ItalyMedical Pathology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Piersigilli
authors.affiliation: Department of Neonatology, Bambino Gesù Children's Hospital, Rome, ItalyHematology Unit, Bambino Gesù Children's Hospital, Rome, ItalyMedical Pathology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Corchia
authors.affiliation: Department of Neonatology, Bambino Gesù Children's Hospital, Rome, ItalyHematology Unit, Bambino Gesù Children's Hospital, Rome, ItalyMedical Pathology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Auriti
mesh_terms: D001778:Blood Coagulation Disorders / Q000209:etiology; D017809:Fatal Outcome; D005334:Fever / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000209:etiology; D007694:Killer Cells, Natural; D017114:Liver Failure, Acute / Q000209:etiology*; D051359:Lymphohistiocytosis, Hemophagocytic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009154:Mutation; D054353:Perforin / Q000235:genetics*
chemical_list: D054353:Perforin