Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis

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

Research output: Contribution to journalArticle

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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 languageEnglish
Pages (from-to)978-981
Number of pages4
JournalHaematologica
Volume92
Issue number7
DOIs
Publication statusPublished - Jul 1 2007

Fingerprint

Hemophagocytic Lymphohistiocytosis
Perforin
Mutation
Genes
Sequence Deletion
Guanine
Adenine
Nails
Codon
Base Pairing
Blood Cells
Differential Diagnosis
Nucleotides

All Science Journal Classification (ASJC) codes

  • Hematology

Cite this

Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. / Nagafuji, Koji; Nonami, Atsushi; Kumano, Takashi; Kikushige, Yoshikane; Yoshimoto, Goichi; Takenaka, Katsuto; Shimoda, Kazuya; Ohga, Shoichi; Yasukawa, Masaki; Horiuchi, Hisanori; Ishii, Eiichi; Harada, Mine.

In: Haematologica, Vol. 92, No. 7, 01.07.2007, p. 978-981.

Research output: Contribution to journalArticle

Nagafuji, K, Nonami, A, Kumano, T, Kikushige, Y, Yoshimoto, G, Takenaka, K, Shimoda, K, Ohga, S, Yasukawa, M, Horiuchi, H, Ishii, E & Harada, M 2007, 'Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis', Haematologica, vol. 92, no. 7, pp. 978-981. https://doi.org/10.3324/haematol.11233
Nagafuji, Koji ; Nonami, Atsushi ; Kumano, Takashi ; Kikushige, Yoshikane ; Yoshimoto, Goichi ; Takenaka, Katsuto ; Shimoda, Kazuya ; Ohga, Shoichi ; Yasukawa, Masaki ; Horiuchi, Hisanori ; Ishii, Eiichi ; Harada, Mine. / Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. In: Haematologica. 2007 ; Vol. 92, No. 7. pp. 978-981.
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