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-link ed lymphoproliferative disease and familial hemophagocytic lymphohistiocyto sis, respectively. Epstein-Barr virus (EBV)-associated hemophagocytic syndr ome, a fulminant non-inherited T-cell lymphoproliferative disease, is relat ively common in Japan and is extremely difficult to distinguish from X-link ed lymphoproliferative disease and familial hemophagocytic lymphohistiocyto sis, 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 mutatio n was not identified in either of the genes, suggesting that mutations of t he SAP/SH2DlA/DSHP and perforin genes are not responsible for the pathogene sis of EBV-associated hemophagocytic syndrome in Japan. (C) 2001 Wiley-Liss , Inc.