Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan.
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.
Suga
Naohiro
N
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. nsuga@pediatr.med.kyushu-u.ac.jp
Takada
Hidetoshi
H
Nomura
Akihiko
A
Ohga
Shouichi
S
Ishii
Eiichi
E
Ihara
Kenji
K
Ohshima
Koichi
K
Hara
Toshiro
T
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
D019002:CD56 Antigen; D016827:CD8 Antigens; D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin