Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.
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 (916GAEA). 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.
Nagafuji
Koji
K
Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences, Fukuoka. Japan. nagafuji@intmed1.med.kyushu-u.ac.jp
Nonami
Atsushi
A
Kumano
Takashi
T
Kikushige
Yoshikane
Y
Yoshimoto
Goichi
G
Takenaka
Katsuto
K
Shimoda
Kazuya
K
Ohga
Shouichi
S
Yasukawa
Masaki
M
Horiuchi
Hisanori
H
Ishii
Eiichi
E
Harada
Mine
M
D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics*
D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin