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

doi:10.3324/haematol.11233

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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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 (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 language	English
Pages (from-to)	978-981
Number of pages	4
Journal	Haematologica
Volume	92
Issue number	7
DOIs	https://doi.org/10.3324/haematol.11233
Publication status	Published - Jul 2007

All Science Journal Classification (ASJC) codes

Hematology

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10.3324/haematol.11233

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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 (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.",

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

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T1 - Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis

AU - Nagafuji, Koji

AU - Nonami, Atsushi

AU - Kumano, Takashi

AU - Kikushige, Yoshikane

AU - Yoshimoto, Goichi

AU - Takenaka, Katsuto

AU - Shimoda, Kazuya

AU - Ohga, Shouichi

AU - Yasukawa, Masaki

AU - Horiuchi, Hisanori

AU - Ishii, Eiichi

AU - Harada, Mine

PY - 2007/7

Y1 - 2007/7

N2 - 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.

AB - 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.

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EP - 981

JO - Haematologica

JF - Haematologica

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ER -

Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis

Abstract

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