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- W1499080772 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.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." @default.
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- W1499080772 date "2010-03-29" @default.
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- W1499080772 title "Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation" @default.
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- W1499080772 doi "https://doi.org/10.1111/j.1651-2227.2009.01647.x" @default.
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