Neonatal Cytomegalovirus Palatal Ulceration and Bocavirus Pneumonitis Associated With a Defect of Lymphocyte Cytotoxicity Caused by Mutations in UNC13D

• Published in: Journal of the Pediatric Infectious Diseases Society Vol. 8; no. 1; pp. 73 - 76
• Main Authors: Gray, Paul Edgar, Shadur, Bella, Russell, Susan, Mitchell, Richard, Gallagher, Kerri, Thia, Kevin, Palasanthiran, Pamela, Voskoboinik, Ilia
• Format: Journal Article
• Language: English
• Published: England 28.03.2019
• Subjects: Cytomegalovirus Infections - immunology; Cytomegalovirus Infections - pathology; Cytotoxicity, Immunologic; Human bocavirus - isolation & purification; Humans; Infant, Newborn; Lymphocytes - immunology; Male; Membrane Proteins - genetics; Mutation; Palate, Hard - immunology; Palate, Hard - pathology; Palate, Hard - virology; Parvoviridae Infections - genetics; Parvoviridae Infections - immunology; Parvoviridae Infections - pathology; Pneumonia, Viral - genetics; Pneumonia, Viral - immunology; Pneumonia, Viral - pathology; Ulcer - immunology; Ulcer - pathology; Ulcer - virology; natural killer cells; hemophagocytic lymphohistiocytosis; familial hemophagocytic lymphohistiocytosis (FHL); degranulation
• ISSN: 2048-7207; 2048-7207
• DOI: 10.1093/jpids/pix112

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.