Abstract
BackgroundX-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.MethodsEBV-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.ResultsBoth XLP patients showed that the dominant population of EBV-infected cells was CD19+ B cells, whereas EBV-infected CD8+ T cells were very few.ConclusionsIn 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.
Highlights
Hemophagocytic lymphohistiocytosis (HLH) is clinically characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, systemic hypercytokinemia and cytopenia [1]
It is possible that the poor response of X-linked lymphoproliferative syndrome (XLP)-related Epstein-Barr virus (EBV)-HLH to immunochemotherapy can be attributed to the type of EBV-infected cells in this disease, which may differ from the cell type that infected in sporadic EBV-associated HLH (EBV-HLH)
To determine the localization of EBV infection in the lymphocyte subpopulations of patient 1, CD4+ T cells, CD8+ T cells, CD19+ B cells and CD56+ natural killer (NK) cells were sorted using the immunomagnetic bead method and the presence of EBV was evaluated in each lymphocyte subpopulation by EBV-encoded small RNA (EBER)-1 in situ hybridization (ISH) (Figure 1A)
Summary
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
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