A Novel X-Linked Inhibitor of Apoptosis Deficient Variant Showing Attenuated Epstein-Barr Virus Response
- 25 May 2020
- journal article
- research article
- Published by Oxford University Press (OUP) in Journal of the Pediatric Infectious Diseases Society
- Vol. 10 (3), 345-348
- 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.Keywords
Funding Information
- National University Health System
- National Medical Research Council
- Hong Kong Society for Relief of Disabled Children
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