Research
Characterization of Epstein-Barr virus (EBV)-infected cells in EBV-associated hemophagocytic lymphohistiocytosis in two patients with X-linked lymphoproliferative syndrome type 1 and type 2
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* Corresponding author: Hirokazu Kanegane kanegane@med.u-toyama.ac.jp
1 Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Toyama, Japan
2 Division of Immunology, Children' s Hospital of Chongqing Medical University, Chongqing, China
3 Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan
4 Department of Infectious Diseases, National Research Institute for Child Health and Development, Tokyo, Japan
5 Department of Pediatrics, Kurashiki Central Hospital, Kurashiki, Japan
6 Department of Pediatrics, Tokyo Women's Medical University Medical Center East, Tokyo, Japan
Herpesviridae 2012, 3:1 doi:10.1186/2042-4280-3-1
Published: 10 February 2012Abstract
Background
X-linked lymphoproliferative syndrome (XLP) is a rare inherited immunodeficiency by an extreme vulnerability to Epstein-Barr virus (EBV) infection, frequently resulting in hemophagocytic lymphohistiocytosis (HLH). XLP are now divided into type 1 (XLP-1) and type 2 (XLP-2), which are caused by mutations of SH2D1A/SLAM-associated protein (SAP) and X-linked inhibitor of apoptosis protein (XIAP) genes, respectively. The diagnosis of XLP in individuals with EBV-associated HLH (EBV-HLH) is generally difficult because they show basically similar symptoms to sporadic EBV-HLH. Although EBV-infected cells in sporadic EBV-HLH are known to be mainly in CD8+ T cells, the cell-type of EBV-infected cells in EBV-HLH seen in XLP patients remains undetermined.
Methods
EBV-infected cells in two patients (XLP-1 and XLP-2) presenting EBV-HLH were evaluated by in EBER-1 in situ hybridization or quantitative PCR methods.
Results
Both XLP patients showed that the dominant population of EBV-infected cells was CD19+ B cells, whereas EBV-infected CD8+ T cells were very few.
Conclusions
In XLP-related EBV-HLH, EBV-infected cells appear to be predominantly B cells. B cell directed therapy such as rituximab may be a valuable option in the treatment of EBV-HLH in XLP patients.