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A Novel X-Linked Inhibitor of Apoptosis Deficient Variant Showing Attenuated Epstein-Barr Virus Response.
Journal of the Pediatric Infectious Diseases Society ( IF 2.5 ) Pub Date : 2020-05-25 , DOI: 10.1093/jpids/piaa048
Youjia Zhong 1 , Chiung-Hui Huang 2 , Win Mar Soe 3 , Koon Wing Chan 4 , Mas Suhaila Isa 1 , Jianyi Soh 1 , Mark Yap 1 , Paul Anthony MacAry 5, 6 , Yu-Lung Lau 4, 7 , Louis Yi Ann Chai 3, 8, 9 , Lynette Pei-Chi Shek 1, 2 , Bee Wah Lee 1, 2
Affiliation  

We report on 2 Asian siblings with X-linked inhibitor of apoptosis deficiency that arose from a novel deletion that presented with Epstein-Barr virus disease and hemophagocytic lymphohistiocytosis. This disease is ascribed to dysfunction in the nucleotide binding and oligomerization domain receptor pathway, tested using a modified muramyl dipeptide-mediated assay.

中文翻译:

一种新型 X 连锁细胞凋亡缺陷变体抑制剂,显示减毒的 Epstein-Barr 病毒反应。

我们报告了 2 个亚洲兄弟姐妹,他们患有 X 连锁细胞凋亡缺乏抑制剂,这些抑制剂是由一种新的缺失引起的,该缺失表现为 Epstein-Barr 病毒病和噬血细胞性淋巴组织细胞增生症。这种疾病归因于核苷酸结合和寡聚化结构域受体途径的功能障碍,使用改良的胞壁酰二肽介导的测定进行测试。
更新日期:2020-05-25
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