Genomic investigations of unexplained acute hepatitis in children
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Published version
Author(s)
Morfopoulou, Sofia
Buddle, Sarah
Torres Montaguth, Oscar Enrique
Atkinson, Laura
Guerra-Assunção, José Afonso
Type
Journal Article
Abstract
Since its first identification in Scotland, over 1,000 cases of unexplained paediatric hepatitis in children have been reported worldwide, including 278 cases in the UK1. Here we report an investigation of 38 cases, 66 age-matched immunocompetent controls and 21 immunocompromised comparator participants, using a combination of genomic, transcriptomic, proteomic and immunohistochemical methods. We detected high levels of adeno-associated virus 2 (AAV2) DNA in the liver, blood, plasma or stool from 27 of 28 cases. We found low levels of adenovirus (HAdV) and human herpesvirus 6B (HHV-6B) in 23 of 31 and 16 of 23, respectively, of the cases tested. By contrast, AAV2 was infrequently detected and at low titre in the blood or the liver from control children with HAdV, even when profoundly immunosuppressed. AAV2, HAdV and HHV-6 phylogeny excluded the emergence of novel strains in cases. Histological analyses of explanted livers showed enrichment for T cells and B lineage cells. Proteomic comparison of liver tissue from cases and healthy controls identified increased expression of HLA class 2, immunoglobulin variable regions and complement proteins. HAdV and AAV2 proteins were not detected in the livers. Instead, we identified AAV2 DNA complexes reflecting both HAdV-mediated and HHV-6B-mediated replication. We hypothesize that high levels of abnormal AAV2 replication products aided by HAdV and, in severe cases, HHV-6B may have triggered immune-mediated hepatic disease in genetically and immunologically predisposed children.
Date Issued
2023-05-18
Date Acceptance
2023-03-23
Citation
Nature, 2023, 617 (7961), pp.564-573
ISSN
0028-0836
Publisher
Nature Research
Start Page
564
End Page
573
Journal / Book Title
Nature
Volume
617
Issue
7961
Copyright Statement
Open Access This article is licensed under a Creative Commons Attribution
4.0 International License, which permits use, sharing, adaptation, distribution
and reproduction in any medium or format, as long as you give appropriate
credit to the original author(s) and the source, provide a link to the Creative Commons licence,
and indicate if changes were made. The images or other third party material in this article are
included in the article’s Creative Commons licence, unless indicated otherwise in a credit line
to the material. If material is not included in the article’s Creative Commons licence and your
intended use is not permitted by statutory regulation or exceeds the permitted use, you will
need to obtain permission directly from the copyright holder. To view a copy of this licence,
visit http://creativecommons.org/licenses/by/4.0/.
© The Author(s) 2023
4.0 International License, which permits use, sharing, adaptation, distribution
and reproduction in any medium or format, as long as you give appropriate
credit to the original author(s) and the source, provide a link to the Creative Commons licence,
and indicate if changes were made. The images or other third party material in this article are
included in the article’s Creative Commons licence, unless indicated otherwise in a credit line
to the material. If material is not included in the article’s Creative Commons licence and your
intended use is not permitted by statutory regulation or exceeds the permitted use, you will
need to obtain permission directly from the copyright holder. To view a copy of this licence,
visit http://creativecommons.org/licenses/by/4.0/.
© The Author(s) 2023
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/36996872
PII: 10.1038/s41586-023-06003-w
Subjects
Acute Disease
Adenovirus Infections, Human
B-Lymphocytes
Child
Gene Expression Profiling
Genomics
Hepatitis
Humans
Immunohistochemistry
Liver
Proteomics
T-Lymphocytes
Publication Status
Published
Coverage Spatial
England
Date Publish Online
2023-03-30