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https://doi.org/10.1093/jpids/piaa048
| Title: | A Novel X-Linked Inhibitor of Apoptosis Deficient Variant Showing Attenuated Epstein-Barr Virus Response | Authors: | Zhong, Youjia Huang, Chiung-Hui Soe, Win Mar Chan, Koon Wing Isa, Mas Suhaila Soh, Jianyi Yap, Mark MacAry, Paul Anthony Lau, Yu-Lung Chai, Louis Yi Ann Shek, Lynette Pei-Chi Lee, Bee Wah |
Keywords: | Science & Technology Life Sciences & Biomedicine Infectious Diseases Pediatrics BIRC4 mutation Epstein-Barr virus NOD-2 X-linked inhibitor of apoptosis X-linked lymphoproliferative syndrome XIAP DEFICIENCY |
Issue Date: | 1-Mar-2021 | Publisher: | OXFORD UNIV PRESS | Citation: | Zhong, Youjia, Huang, Chiung-Hui, Soe, Win Mar, Chan, Koon Wing, Isa, Mas Suhaila, Soh, Jianyi, Yap, Mark, MacAry, Paul Anthony, Lau, Yu-Lung, Chai, Louis Yi Ann, Shek, Lynette Pei-Chi, Lee, Bee Wah (2021-03-01). A Novel X-Linked Inhibitor of Apoptosis Deficient Variant Showing Attenuated Epstein-Barr Virus Response. JOURNAL OF THE PEDIATRIC INFECTIOUS DISEASES SOCIETY 10 (3) : 345-348. ScholarBank@NUS Repository. https://doi.org/10.1093/jpids/piaa048 | Abstract: | 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. | Source Title: | JOURNAL OF THE PEDIATRIC INFECTIOUS DISEASES SOCIETY | URI: | https://scholarbank.nus.edu.sg/handle/10635/239545 | ISSN: | 2048-7193 2048-7207 |
DOI: | 10.1093/jpids/piaa048 |
| Appears in Collections: | Staff Publications Elements |
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