Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis

Koji Nagafuji, Atsushi Nonami, Takashi Kumano, Yoshikane Kikushige, Goichi Yoshimoto, Katsuto Takenaka, Kazuya Shimoda, Shouichi Ohga, Masaki Yasukawa, Hisanori Horiuchi, Eiichi Ishii, Mine Harada

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88 Citations (Scopus)


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 (916G→A). 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.

Original languageEnglish
Pages (from-to)978-981
Number of pages4
Issue number7
Publication statusPublished - Jul 2007

All Science Journal Classification (ASJC) codes

  • Hematology


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