title: Perforin gene mutation in familial haemophagocytic lymphohistiocytosis: the first reported case from Hong Kong.
abstract: Familial haemophagocytic lymphohistiocytosis is a rare but invariably fatal disease without haematopoietic stem cell transplantation. Genetic defect identification is useful for confirming a clinical diagnosis, predicting the risk of future recurrence, and defining haemophagocytic lymphohistiocytosis predisposition in asymptomatic family members. Notably, familial haemophagocytic lymphohistiocytosis type 2 associates with mutations in the perforin gene (PRF1) which is the most frequent subtype of familial haemophagocytic lymphohistiocytosis. Although perforin gene mutations have been described in Asians, they are largely reported from Japan. The case reported here is the first familial haemophagocytic lymphohistiocytosis type 2 patient in Hong Kong with an identified perforin gene mutation.
authors.affiliation: Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong.
authors.forename: Grace P K
authors.initials: GP
authors.lastname: Chiang
authors.affiliation: Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong.
authors.forename: C K
authors.initials: CK
authors.lastname: Li
authors.affiliation: Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong.
authors.forename: Vincent
authors.initials: V
authors.lastname: Lee
authors.affiliation: Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong.
authors.forename: Frankie W T
authors.initials: FW
authors.lastname: Cheng
authors.affiliation: Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong.
authors.forename: Alex W K
authors.initials: AW
authors.lastname: Leung
authors.affiliation: Division of Pediatrics and Hematology, Takasago-seibu Hospital, Takasago, Japan.
authors.forename: Shinsaku
authors.initials: S
authors.lastname: Imashuku
authors.affiliation: Department of Pediatrics, Kyoto, Prefectural University of Medicine, Graduate School of Medical Science, Japan.
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Imamura
authors.affiliation: Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong.
authors.forename: Matthew M K
authors.initials: MM
authors.lastname: Shing
mesh_terms: D005260:Female; D006723:Hong Kong; D006801:Humans; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D054353:Perforin / Q000235:genetics*
chemical_list: D054353:Perforin
keywords: Lymphohistiocytosis, hemophagocytic; Perforin