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Article

Late‐onset cases of familial hemophagocytic lymphohistiocytosis with missense <i>perforin</i> gene mutations

31 Jan 2007

Abstract excerpt

Since the discovery of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) type 2, heterogeneous features in FHL2 patients have been identified in a report of Feldmann et al. as the beginning. This study was conducted to determine the impact of characteristic gene mutations on late-onset (age > or = 7 years) hemophagocytic lymphohistiocytosis episodes. We analyzed perforin gene mutations...

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PMID: 17266056
DOI: 10.1002/ajh.20878

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