No mutations of SAP/SH2D1A/DSHP and perforin genes in patients with Epstein-Barr virus-associated hemophagocytic syndrome in Japan.

Recently, mutations of two genes, SAP/SH2D1A/DSHP and perforin genes, have been identified in two fatal inherited lymphoproliferative diseases, X-linked lymphoproliferative disease and familial hemophagocytic lymphohistiocytosis, respectively. Epstein-Barr virus (EBV)-associated hemophagocytic syndrome, a fulminant non-inherited T-cell lymphoproliferative disease, is relatively common in Japan and is extremely difficult to distinguish from X-linked lymphoproliferative disease and familial hemophagocytic lymphohistiocytosis, especially in sporadic cases, because of similarities in clinical and laboratory features. Mutation analysis was carried out of samples obtained from 14 patients with EBV-associated hemophagocytic syndrome by sequencing the genomic SAP/SH2D1A/DSHP and perforin genes. However, a specific mutation was not identified in either of the genes, suggesting that mutations of the SAP/SH2D1A/DSHP and perforin genes are not responsible for the pathogenesis of EBV-associated hemophagocytic syndrome in Japan.