Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations |
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Authors: | Ueda Ikuyo Kurokawa Yumi Koike Kenichi Ito Shuichi Sakata Akifumi Matsumora Tsutomu Fukushima Takashi Morimoto Akira Ishii Eiichi Imashuku Shinsaku |
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Institution: | Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. u194@koto.kpu-m.ac.jp |
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Abstract: | 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 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. |
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Keywords: | familial hemophagocytic lymphohistiocytosis perforin gene missense mutation late‐onset |
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