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Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation
Author(s) -
Danhaive O,
Caniglia M,
Devito R,
Piersigilli F,
Corchia C,
Auriti C
Publication year - 2010
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2009.01647.x
Subject(s) - perforin , medicine , pancytopenia , liver failure , hemophagocytic lymphohistiocytosis , immunology , liver transplantation , mutation , pediatrics , gene , transplantation , immune system , disease , genetics , cd8 , biology , bone marrow
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.