These authors have contributed equally.
Clinical and Genetic Features of 5 Chinese Patients with X-linked lymphoproliferative Syndrome
Article first published online: 27 OCT 2013
© 2013 John Wiley & Sons Ltd
Scandinavian Journal of Immunology
Volume 78, Issue 5, pages 463–467, November 2013
How to Cite
Sun, J., Ying, W., Liu, D., Hui, X., Yu, Y., Wang, J. and Wang, X. (2013), Clinical and Genetic Features of 5 Chinese Patients with X-linked lymphoproliferative Syndrome. Scandinavian Journal of Immunology, 78: 463–467. doi: 10.1111/sji.12103
- Issue published online: 27 OCT 2013
- Article first published online: 27 OCT 2013
- Accepted manuscript online: 14 AUG 2013 10:54AM EST
- Manuscript Accepted: 4 AUG 2013
- Manuscript Received: 16 MAY 2013
- National Natural Science Foundation of China. Grant Numbers: 81172877, 81000260
- Shanghai Rising-Star Program. Grant Number: 11QA1400700
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.