Ma X, Okamura A, Yosioka M, Ishiguro N, Kikuta H, Kobayashi K
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
J Med Virol. 2001 Oct;65(2):358-61.
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.
最近，分别在两种致命的遗传性淋巴细胞增生性疾病——X连锁淋巴细胞增生性疾病和家族性噬血细胞性淋巴组织细胞增生症中，发现了两个基因SAP/SH2D1A/DSHP和穿孔素基因的突变。爱泼斯坦-巴尔病毒（EBV）相关噬血细胞综合征是一种暴发性非遗传性T细胞淋巴细胞增生性疾病，在日本相对常见，并且由于临床和实验室特征相似，极难与X连锁淋巴细胞增生性疾病和家族性噬血细胞性淋巴组织细胞增生症区分开来，尤其是在散发病例中。通过对基因组SAP/SH2D1A/DSHP和穿孔素基因进行测序，对14例EBV相关噬血细胞综合征患者的样本进行了突变分析。然而，在这两个基因中均未鉴定出特定突变，这表明SAP/SH2D1A/DSHP和穿孔素基因的突变与日本EBV相关噬血细胞综合征的发病机制无关。
