Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan

Br J Haematol. 2002 Feb;116(2):346-9. doi: 10.1046/j.1365-2141.2002.03266.x.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • CD56 Antigen
  • CD8 Antigens
  • Female
  • Flow Cytometry
  • Heterozygote
  • Histiocytosis, Non-Langerhans-Cell / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Leukocytes / chemistry
  • Leukocytes / immunology
  • Male
  • Membrane Glycoproteins / analysis
  • Membrane Glycoproteins / genetics*
  • Mutation
  • Pedigree
  • Perforin
  • Pore Forming Cytotoxic Proteins


  • CD56 Antigen
  • CD8 Antigens
  • Membrane Glycoproteins
  • Pore Forming Cytotoxic Proteins
  • Perforin

Associated data

  • OMIM/267700