TY - JOUR
T1 - Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation
AU - Danhaive, O.
AU - Caniglia, M.
AU - Devito, R.
AU - Piersigilli, F.
AU - Corchia, C.
AU - Auriti, C.
PY - 2010/5
Y1 - 2010/5
N2 - 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.
AB - 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.
KW - Bone marrow transplantation
KW - Liver transplantation
KW - Natural killer cell
KW - Perforin
KW - T lymphocyte
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U2 - 10.1111/j.1651-2227.2009.01647.x
DO - 10.1111/j.1651-2227.2009.01647.x
M3 - Article
C2 - 20055781
AN - SCOPUS:77950213863
VL - 99
SP - 778
EP - 780
JO - Acta Paediatrica, International Journal of Paediatrics
JF - Acta Paediatrica, International Journal of Paediatrics
SN - 0803-5253
IS - 5
ER -