Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan

Naohiro Suga, Hidetoshi Takada, Akihiko Nomura, Shouichi Ohga, Eiichi Ishii, Kenji Ihara, Koichi Ohshima, Toshiro Hara

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67 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)346-349
Number of pages4
JournalBritish Journal of Haematology
Issue number2
Publication statusPublished - 2002

All Science Journal Classification (ASJC) codes

  • Hematology


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