Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation.
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.
Danhaive
O
O
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.
Caniglia
M
M
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.
Devito
R
R
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.
Piersigilli
F
F
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.
Corchia
C
C
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.
Auriti
C
C
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.
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*
D054353:Perforin