V348I mutation in UL23 gene of human herpesvirus 1 in a case of herpetic hepatitis and haemophagocytic lymphohistiocytosis

We herein report the case of a young immunocompetent adult patient with a rapidly fatal haemophagocytic lymphohistiocytosis syndrome related to human herpesvirus 1 (HHV-1) infection, with herpetic hepatitis and persistent high-level viraemia despite treatment with acyclovir. Haemophagocytic lymphohi...

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Autores principales: Corcione, S., Sidoti, F., Costa, C., Mornese Pinna, S., Bonetto, C., Urbino, R., Cavallo, R., De Rosa, F.G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
First Clinical Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6447736/
https://www.ncbi.nlm.nih.gov/pubmed/30988955
http://dx.doi.org/10.1016/j.nmni.2019.100529
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author Corcione, S.
Sidoti, F.
Costa, C.
Mornese Pinna, S.
Bonetto, C.
Urbino, R.
Cavallo, R.
De Rosa, F.G.
author_facet Corcione, S.
Sidoti, F.
Costa, C.
Mornese Pinna, S.
Bonetto, C.
Urbino, R.
Cavallo, R.
De Rosa, F.G.
author_sort Corcione, S.
collection PubMed
description We herein report the case of a young immunocompetent adult patient with a rapidly fatal haemophagocytic lymphohistiocytosis syndrome related to human herpesvirus 1 (HHV-1) infection, with herpetic hepatitis and persistent high-level viraemia despite treatment with acyclovir. Haemophagocytic lymphohistiocytosis was confirmed in the patient's spleen and bone marrow. HHV-1 DNA was extracted from whole blood and liver biopsy and the UL23 gene was sequenced. A V348I natural polymorphism of the TK protein was found in blood and liver specimens. Further studies are needed to investigate the role of this polymorphism in the development of systemic immune dysregulation.
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spelling pubmed-64477362019-04-15 V348I mutation in UL23 gene of human herpesvirus 1 in a case of herpetic hepatitis and haemophagocytic lymphohistiocytosis Corcione, S. Sidoti, F. Costa, C. Mornese Pinna, S. Bonetto, C. Urbino, R. Cavallo, R. De Rosa, F.G. New Microbes New Infect First Clinical Case Report We herein report the case of a young immunocompetent adult patient with a rapidly fatal haemophagocytic lymphohistiocytosis syndrome related to human herpesvirus 1 (HHV-1) infection, with herpetic hepatitis and persistent high-level viraemia despite treatment with acyclovir. Haemophagocytic lymphohistiocytosis was confirmed in the patient's spleen and bone marrow. HHV-1 DNA was extracted from whole blood and liver biopsy and the UL23 gene was sequenced. A V348I natural polymorphism of the TK protein was found in blood and liver specimens. Further studies are needed to investigate the role of this polymorphism in the development of systemic immune dysregulation. Elsevier 2019-03-14 /pmc/articles/PMC6447736/ /pubmed/30988955 http://dx.doi.org/10.1016/j.nmni.2019.100529 Text en © 2019 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle First Clinical Case Report
Corcione, S.
Sidoti, F.
Costa, C.
Mornese Pinna, S.
Bonetto, C.
Urbino, R.
Cavallo, R.
De Rosa, F.G.
V348I mutation in UL23 gene of human herpesvirus 1 in a case of herpetic hepatitis and haemophagocytic lymphohistiocytosis
title V348I mutation in UL23 gene of human herpesvirus 1 in a case of herpetic hepatitis and haemophagocytic lymphohistiocytosis
title_full V348I mutation in UL23 gene of human herpesvirus 1 in a case of herpetic hepatitis and haemophagocytic lymphohistiocytosis
title_fullStr V348I mutation in UL23 gene of human herpesvirus 1 in a case of herpetic hepatitis and haemophagocytic lymphohistiocytosis
title_full_unstemmed V348I mutation in UL23 gene of human herpesvirus 1 in a case of herpetic hepatitis and haemophagocytic lymphohistiocytosis
title_short V348I mutation in UL23 gene of human herpesvirus 1 in a case of herpetic hepatitis and haemophagocytic lymphohistiocytosis
title_sort v348i mutation in ul23 gene of human herpesvirus 1 in a case of herpetic hepatitis and haemophagocytic lymphohistiocytosis
topic First Clinical Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6447736/
https://www.ncbi.nlm.nih.gov/pubmed/30988955
http://dx.doi.org/10.1016/j.nmni.2019.100529
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