title: Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan.
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.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. nsuga@pediatr.med.kyushu-u.ac.jp
authors.forename: Naohiro
authors.initials: N
authors.lastname: Suga
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Takada
authors.forename: Akihiko
authors.initials: A
authors.lastname: Nomura
authors.forename: Shouichi
authors.initials: S
authors.lastname: Ohga
authors.forename: Eiichi
authors.initials: E
authors.lastname: Ishii
authors.forename: Kenji
authors.initials: K
authors.lastname: Ihara
authors.forename: Koichi
authors.initials: K
authors.lastname: Ohshima
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D017668:Age of Onset; D019002:CD56 Antigen; D016827:CD8 Antigens; D005260:Female; D005434:Flow Cytometry; D006579:Heterozygote; D015616:Histiocytosis, Non-Langerhans-Cell / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007962:Leukocytes / Q000737:chemistry / Q000276:immunology; D008297:Male; D008562:Membrane Glycoproteins / Q000032:analysis / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins
chemical_list: D019002:CD56 Antigen; D016827:CD8 Antigens; D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin