Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations
Article first published online: 31 JAN 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Hematology
Volume 82, Issue 6, pages 427–432, June 2007
How to Cite
Ueda, I., Kurokawa, Y., Koike, K., Ito, S., Sakata, A., Matsumora, T., Fukushima, T., Morimoto, A., Ishii, E. and Imashuku, S. (2007), Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. Am. J. Hematol., 82: 427–432. doi: 10.1002/ajh.20878
- Issue published online: 9 MAY 2007
- Article first published online: 31 JAN 2007
- Manuscript Accepted: 30 OCT 2006
- Manuscript Received: 27 FEB 2006
- Scientific Research in Japan
- familial hemophagocytic lymphohistiocytosis;
- perforin gene;
- missense mutation;
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 ≥ 7 years) hemophagocytic lymphohistiocytosis episodes. We analyzed perforin gene mutations in three late-onset cases from our registry in Japan and an additional 10 cases from the literature. Of the 13 cases with onset ages of a median of 10 (range 7–49) years, nine had homozygous and four had compound heterozygous missense mutations of the perforin gene. None had homozygous nonsense mutations. Our data suggest that nonsense perforin gene mutations yield early onset and missense mutations late onset in FHL2 cases. Am. J. Hematol., 2007. © 2007 Wiley-Liss, Inc.