NDLI: Association of IRF5 Polymorphisms with Susceptibility to Hemophagocytic Lymphohistiocytosis in Children

Content Provider	Springer Nature Link
Author	Yanagimachi, Masakatsu Goto, Hiroaki Miyamae, Takako Kadota, Keisuke Imagawa, Tomoyuki Mori, Masaaki Sato, Hideri Yanagisawa, Ryu Kaneko, Tetsuji Morita, Satoshi Ishii, Eiichi Yokota, Shumpei
Copyright Year	2011
Abstract	Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome and has a varied genetic background. The polymorphism of interferon regulatory factor 5 gene (IRF5) was reported to be associated with susceptibility to macrophage activation syndrome. IRF5 acts as a master transcription factor in the activation of pro-inflammatory cytokines. We assessed associations of IRF5 gene polymorphisms with susceptibility to secondary HLH.Three IRF5 single nucleotide polymorphisms (rs729302, rs2004640, and rs2280714) were genotyped using TaqMan assays in 82 secondary HLH patients and 188 control subjects.There was a significant association of the GT/TT genotype at rs2004640 with secondary HLH susceptibility (p < 0.01). The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T) was associated with secondary HLH susceptibility (p < 0.01).These findings indicate that IRF5 is a genetic factor influencing the susceptibility to secondary HLH and that the IRF5-associated immune response contributes to the pathogenesis of HLH.
Starting Page	946
Ending Page	951
Page Count	6
File Format	PDF
ISSN	02719142
Journal	Journal of Clinical Immunology
Volume Number	31
Issue Number	6
e-ISSN	15732592
Language	English
Publisher	Springer US
Publisher Date	2011-09-04
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Interferon regulatory factor 5 polymorphisms hemophagocytic lymphohistiocytosis Internal Medicine Immunology Infectious Diseases Medical Microbiology
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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