Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan

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

研究成果: ジャーナルへの寄稿学術誌査読

63 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)346-349
ページ数4
ジャーナルBritish Journal of Haematology
116
2
DOI
出版ステータス出版済み - 2002

!!!All Science Journal Classification (ASJC) codes

  • 血液学

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