Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China.
Scand J Immunol. 2013 Nov;78(5):463-7. doi: 10.1111/sji.12103.
In this study, we report the clinical and genetic features of Chinese patients with X-linked lymphoproliferative syndrome (XLP). Male patients with fulminant infectious mononucleosis (FIM), Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis (HLH) or persistent EBV viremia were enrolled in this study. Direct sequencing was used to detect SH2D1A/XIAP gene mutations. The patients' clinical features were assessed by retrieval of data from medical records. Twenty-one male patients with FIM, EBV-associated HLH or persistent EBV viremia were evaluated. Four patients had SH2D1A mutations, and one patient had an XIAP mutation. All five of these patients had symptoms of HLH and EBV infection. Among the five patients, the youngest one was only 1 month old at onset. One patient exhibited hypogammaglobulinemia. Of four patients evaluated for immunological function, all exhibited reduced CD4/CD8 ratios. Three patients had rapid disease progression and died. One patient received haematopoietic stem cell transplantation and is well. The overall clinical phenotypes of Chinese patients with XLP matched previous reports. For patients with severe EBV-associated HLH, our results indicate the need to examine the possibility of XLP.
在这项研究中，我们报告了中国 X 连锁淋巴组织增生综合征（XLP）患者的临床和遗传特征。本研究纳入了暴发性传染性单核细胞增多症（FIM）、EB 病毒（EBV）相关噬血细胞性淋巴组织细胞增生症（HLH）或持续性 EBV 血症的男性患者。直接测序用于检测 SH2D1A/XIAP 基因突变。通过病历数据检索评估患者的临床特征。共评估了 21 例 FIM、EBV 相关 HLH 或持续性 EBV 血症的男性患者。4 例患者存在 SH2D1A 突变，1 例患者存在 XIAP 突变。这 5 例患者均有 HLH 和 EBV 感染的症状。这 5 例患者中，年龄最小的仅 1 个月大。1 例患者表现为低丙种球蛋白血症。4 例评估免疫功能的患者中，所有患者的 CD4/CD8 比值均降低。3 例患者疾病进展迅速，死亡。1 例患者接受造血干细胞移植后情况良好。中国 XLP 患者的总体临床表型与既往报道相符。对于患有严重 EBV 相关 HLH 的患者，我们的结果表明需要检查 XLP 的可能性。
