Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan |
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Authors: | Suga Naohiro Takada Hidetoshi Nomura Akihiko Ohga Shouichi Ishii Eiichi Ihara Kenji Ohshima Koichi Hara Toshiro |
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Affiliation: | Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. nsuga@pediatr.med.kyushu-u.ac.jp |
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Abstract: | The perforin gene was analysed in 15 Japanese patients with primary haemophagocytic lymphohistiocytosis (HLH). Perforin gene defects were found in two out of eight patients with familial HLH (FHL), and one out of seven without affected siblings. Four novel mutations were identified. Compound heterozygous mutations (one FHL and one sporadic HLH) and only one allele mutation (one FHL) were defined. Flow cytometry revealed no perforin expression in CD8+ or CD56+ cells from a surviving patient with a mutation. The frequency of mutation was at least 20% of FHL in Japan. Flow cytometry for intracellular perforin may be useful for the screening of FHL2. |
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Keywords: | haemophagocytic lymphohistiocytosis perforin flow cytometry |
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