Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation

O. Danhaive, M. Caniglia, R. Devito, F. Piersigilli, C. Corchia, C. Auriti

Research output: Contribution to journalArticlepeer-review

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. Conclusion: 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.

Original languageEnglish
Pages (from-to)778-780
Number of pages3
JournalActa Paediatrica, International Journal of Paediatrics
Volume99
Issue number5
DOIs
Publication statusPublished - May 2010

Keywords

  • Bone marrow transplantation
  • Liver transplantation
  • Natural killer cell
  • Perforin
  • T lymphocyte

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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