期刊
MOLECULAR MEDICINE REPORTS
卷 11, 期 5, 页码 3291-3294出版社
SPANDIDOS PUBL LTD
DOI: 10.3892/mmr.2015.3173
关键词
X-linked lymphoproliferative disease type 1; SH2D1A mutation; lymphocytic choriomeningitis virus; de novo mutation
资金
- National Science Foundation of China [81000731]
- Promotive Research Fund for Excellent Young and Middle-Aged Scientisits of Shandong Province [BS2010YY045]
- Shandong Provincial Natural Science Foundation of China [ZR2011HM019]
X-linked lymphoproliferative disease type 1 (XLP1) is a rare genetic immunodeficiency disease, which occurs due to germline mutations in the SH2D1A gene. This gene has been reported to encode the adaptor molecule signaling lymphocytic activation molecule-associated protein XLP1 is generally triggered by the Epstein-Barr virus (EBV) infection. The present study reported the case of a 4-year-old male who presented with a high fever, hypogammaglobulinemia, diffuse lung disease and encephalitis. The patient was infected with the lymphocytic choriomeningitis virus (LCMV), not EBV or any other human herpes virus. The patient was found to carry a SH2D1A c.7G>T/p.A3S mutation, which was inherited from the mother and maternal grandfather, as well as a SH2D1A c.228T>A/p.Y76X mutation, which was identified to be a maternal-onset de novo mutation at the time of germline development of the patient's mother. To the best of our knowledge, the present study is the first reported case of maternal-onset XLP1 with a de novo SH2D1A mutation and LCMV infection.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据