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Association ofIRF5Polymorphisms with Susceptibility to Hemophagocytic Lymphohistiocytosis in Children

✍ Scribed by Masakatsu Yanagimachi; Hiroaki Goto; Takako Miyamae; Keisuke Kadota; Tomoyuki Imagawa; Masaaki Mori; Hidenori Sato; Ryu Yanagisawa; Tetsuji Kaneko; Satoshi Morita; Eiichi Ishii; Shumpei Yokota

Publisher
Springer
Year
2011
Tongue
English
Weight
125 KB
Volume
31
Category
Article
ISSN
0271-9142

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## BACKGROUND. Although familial hemophagocytic lymphohistiocytosis (FHL) has been considered a T-cell disorder, to the authors' knowledge there are no previous reports on the clonal basis of FHL. In the current study the authors analyzed the clonality of T-cells in two FHL patients at the time of

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Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal-recessive disease that affects young children. It presents as a severe hyperinflammatory syndrome with activated macrophages and T lymphocytes. Mutations in the perforin 1 gene (PRF1) were found in FHL-2 in 15-50% of all cases. Defect