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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...
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