A Novel Perforin Gene Mutation in a Japanese Family with Hemophagocytic Lymphohistiocytosis

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• 作者：Ikuyo Ueda (1)
  Shigeyoshi Hibi (1)
  Tohru Sugimoto (1)
  Akira Morimoto (1)
  Urara Kohdera (2)
  Tohru Inaba (3)
  Ken Yamamoto (4)
  Eiichi Ishii (5)
  Shinsaku Imashuku (6)
  
• 关键词：Familial hemophagocytic lymphohistiocytosis ; Perforin ; Mutation ; Natural killer activity
• 刊名：International Journal of Hematology
• 出版年：2006
• 出版时间：January 2006
• 年：2006
• 卷：83
• 期：1
• 页码：51-54
• 全文大小：109KB
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• 作者单位：Ikuyo Ueda (1)
  Shigeyoshi Hibi (1)
  Tohru Sugimoto (1)
  Akira Morimoto (1)
  Urara Kohdera (2)
  Tohru Inaba (3)
  Ken Yamamoto (4)
  Eiichi Ishii (5)
  Shinsaku Imashuku (6)
  
  1. Department of Pediatrics, Kyoto Prefectural University of Medicine, 602-8566, Hirokoji-Kawaramachi, Kamigyo-ku, Kyoto, Japan
  2. Department of Pediatrics, Kansai Medical College, Moriguchi, Japan
  3. Departments of Molecular Genetics and Laboratory Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan
  4. Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
  5. Department of Pediatrics, Saga University, Saga, Japan
  6. Division of Pediatrics, Takasago-seibu Hospital, Takasago, Japan
  

文摘

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.