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 syndr...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Journal of medical virology 2001-10, Vol.65 (2), p.358-361
Hauptverfasser: Ma, Xiaoming, Okamura, Akiko, Yosioka, Mikio, Ishiguro, Nobuhisa, Kikuta, Hideaki, Kobayashi, Kunihiko
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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. J. Med. Virol. 65:358–361, 2001. © 2001 Wiley‐Liss, Inc.
ISSN:0146-6615
1096-9071
DOI:10.1002/jmv.2041