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

Youjia Zhong; Chiung-Hui Huang; Win Mar Soe; Koon Wing Chan; Mas Suhaila Isa; Jianyi Soh; Mark Yap; Paul Anthony MacAry; Yu-Lung Lau; Louis Yi Ann Chai; Lynette Pei-Chi Shek; Bee Wah Lee

doi:10.1093/jpids/piaa048

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

J Pediatric Infect Dis Soc. 2021 Apr 3;10(3):345-348. doi: 10.1093/jpids/piaa048.

Authors

Youjia Zhong¹, Chiung-Hui Huang², Win Mar Soe³, Koon Wing Chan⁴, Mas Suhaila Isa¹, Jianyi Soh¹, Mark Yap¹, 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}

Affiliations

¹ Khoo Teck Puat National University Children's Medical Institute, National University Health System, Singapore.
² Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
³ Division of Infectious Diseases, University Medicine Cluster, National University Health System, Singapore.
⁴ Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong Special Administrative Region (HKSAR), China.
⁵ Life Sciences Institute, National University of Singapore, Singapore.
⁶ CREATE-HUJ Consortium, Department of Microbiology, National University of Singapore, Singapore.
⁷ Shenzhen Engineering Laboratory of Primary Immunodeficiency Diagnosis and Therapy, Hong Kong University (HKU)-Shenzhen Hospital, Shenzhen, China.
⁸ Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
⁹ Department of Haematology-Oncology, National University Cancer Institute, Singapore.

PMID: 32448891
DOI: 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: BIRC4 mutation; Epstein-Barr virus; NOD-2; X-linked inhibitor of apoptosis; X-linked lymphoproliferative syndrome.

© The Author(s) 2020. Published by Oxford University Press on behalf of The Journal of the Pediatric Infectious Diseases Society. All rights reserved. For permissions, please e-mail: [email protected].

MeSH terms

Apoptosis
Epstein-Barr Virus Infections*
Herpesvirus 4, Human / genetics
Humans
Lymphohistiocytosis, Hemophagocytic*
Lymphoproliferative Disorders*