A Novel X-Linked Inhibitor of Apoptosis Deficient Variant Showing Attenuated Epstein-Barr Virus Response

• Published in: Journal of the Pediatric Infectious Diseases Society Vol. 10; no. 3; pp. 345 - 348
• Main 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
• Format: Journal Article
• Language: English
• Published: US Oxford University Press 03.04.2021
• Subjects: NOD-2; mutation; Epstein-Barr virus; X-linked lymphoproliferative syndrome; X-linked inhibitor of apoptosis; BIRC4 mutation

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...