Article
Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation.
Acta paediatrica (Oslo, Norway : 1992) - 1 May 2010
Danhaive O, Caniglia M, Devito R, Piersigilli F, Corchia C, Auriti C
Abstract excerpt
UNLABELLED: 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...
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