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

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...

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Published inJournal 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
LanguageEnglish
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
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Summary: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.
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ISSN:2048-7207
2048-7207
DOI:10.1093/jpids/piaa048