Neonatal Cytomegalovirus Palatal Ulceration and Bocavirus Pneumonitis Associated With a Defect of Lymphocyte Cytotoxicity Caused by Mutations in UNC13D. (3rd February 2018)

• Record Type: Journal Article
• Authors: Gray, Paul Edgar; Shadur, Bella; Russell, Susan; Mitchell, Richard; Gallagher, Kerri; Thia, Kevin; Palasanthiran, Pamela; Voskoboinik, Ilia
• Is Part Of: Journal of the Pediatric Infectious Diseases Society. Volume 8:Number 1(2019)
• Page Start: 73
• Page End: 76
• Publication Date: 2018-02-03
• Subjects: degranulation -- familial hemophagocytic lymphohistiocytosis (FHL) -- hemophagocytic lymphohistiocytosis -- natural killer cells; Communicable diseases in children -- Periodicals; Children -- Diseases -- Periodicals; 618.929
• DOI: 10.1093/jpids/pix112
• Languages: English
• ISSNs: 2048-7193

Abstract

Abstract: Single gene defects that impair lymphocyte cytotoxicity can predispose to severe viral infection that normally remains subclinical. The classic severe presentation is hemophagocytic lymphohistiocytosis. Here, we report the case of a neonate who presented with cytomegalovirus palatal ulceration and bocavirus pneumonitis secondary to impaired cytotoxicity caused by biallelic mutations in the UNC13D gene.