title: A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis.
abstract: A 4-month-old girl with clinical features of hemophagocytic lymphohistiocytosis (HLH) was successfully treated with immunochemotherapy but died at the age of 1 year and 3 months, before hematopoietic stem cell transplantation could be performed. Her family history showed death during infancy of the eldest sister, suggesting a diagnosis of familial HLH (FHL). Direct sequencing of the DNA extracted from the patient's spleen tissue obtained at autopsy revealed a novel perforin gene mutation: a homozygous 1289G insertion (Asp430 frameshift and termination at amino acid residue 457), which has not previously been reported in FHL patients.
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. u194@koto.kpu-m.ac.jp
authors.forename: Ikuyo
authors.initials: I
authors.lastname: Ueda
authors.forename: Urara
authors.initials: U
authors.lastname: Kohdera
authors.forename: Shigeyoshi
authors.initials: S
authors.lastname: Hibi
authors.forename: Tohru
authors.initials: T
authors.lastname: Inaba
authors.forename: Ken
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Tohru
authors.initials: T
authors.lastname: Sugimoto
authors.forename: Akira
authors.initials: A
authors.lastname: Morimoto
authors.forename: Eiichi
authors.initials: E
authors.lastname: Ishii
authors.forename: Shinsaku
authors.initials: S
authors.lastname: Imashuku
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D007564:Japan; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics* / Q000628:therapy; D008562:Membrane Glycoproteins / Q000235:genetics*; D016254:Mutagenesis, Insertional; D010375:Pedigree; D054353:Perforin; D017354:Point Mutation; D052899:Pore Forming Cytotoxic Proteins
chemical_list: D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin