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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Detalles Bibliográficos
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
Descripción
Sumario: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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