Haematologica
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Haematologica, Vol 92, Issue 7, 978-981 doi:10.3324/haematol.11233
Copyright © 2007 by Ferrata Storti Foundation
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Lymphoproliferative Disorders

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

From the Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan (KN, AN, TK, YK, GY, KT, KS, MH); Department of Pediatrics, Graduate School of Medicine, Kyushu University, Fukuoka, Japan (SO); First Department of Internal Medicine, Ehime University, Ehime, Japan (MY); Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan (HH); Department of Pediatrics, Saga University, Saga, Japan (EI)

Correspondence: Koji Nagafuji Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences, 3-1-1 Maidashi, Higashi-ku, Fukuoka. E-mail: nagafuji{at}intmed1.med.kyushu-u.ac.jp

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.

Key words: perforein mutations, hemophagocytic lymphohistiocytosis.






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