Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.

@article{Ueda2003CharacteristicPG,
  title={Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.},
  author={Ikuyo Ueda and Akira Morimoto and Tohru Inaba and Tomohito Yagi and Shigeyoshi Hibi and Tohru Sugimoto and Masahiro Sako and Fumio Yanai and Takashi Fukushima and Masahiko Nakayama and Eiichi Ishii and Shinsaku Imashuku},
  journal={British journal of haematology},
  year={2003},
  volume={121 3},
  pages={503-10}
}
Perforin gene (PRF1) mutations appear to occur in about 30% of patients with haemophagocytic lymphohistiocytosis (HLH). We tested perforin expression and gene mutations in 14 HLH patients and six patients with Epstein-Barr virus-associated HLH (EBV-HLH) in Japan. Five of the 14 HLH patients had perforin abnormalities. The presence of PRF1 genetic… CONTINUE READING