title: Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.
abstract: Perforin gene (PRF1) mutations cause the primary form of hemophagocytic lymphohistiocytosis (HLH). We report a genetic defect of PRF1 in a 62-year-old Japanese man with recurrent episodes of HLH. Sequencing of PRF1 from both peripheral blood mononuclear cells and nail clippings showed compound heterozygous mutation, including deletion of two base pairs at codons 1090 and 1091 (1090-1091delCT) and guanine-to-adenine conversion at nucleotide position 916 (916GAEA). Although primary HLH has been detected in infants and children, genetic mutation of PRF1 or other genes should be considered a differential diagnosis of HLH even in the elderly.
authors.affiliation: Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences, Fukuoka. Japan. nagafuji@intmed1.med.kyushu-u.ac.jp
authors.forename: Koji
authors.initials: K
authors.lastname: Nagafuji
authors.forename: Atsushi
authors.initials: A
authors.lastname: Nonami
authors.forename: Takashi
authors.initials: T
authors.lastname: Kumano
authors.forename: Yoshikane
authors.initials: Y
authors.lastname: Kikushige
authors.forename: Goichi
authors.initials: G
authors.lastname: Yoshimoto
authors.forename: Katsuto
authors.initials: K
authors.lastname: Takenaka
authors.forename: Kazuya
authors.initials: K
authors.lastname: Shimoda
authors.forename: Shouichi
authors.initials: S
authors.lastname: Ohga
authors.forename: Masaki
authors.initials: M
authors.lastname: Yasukawa
authors.forename: Hisanori
authors.initials: H
authors.lastname: Horiuchi
authors.forename: Eiichi
authors.initials: E
authors.lastname: Ishii
authors.forename: Mine
authors.initials: M
authors.lastname: Harada
mesh_terms: D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics*
chemical_list: D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin