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

JOURNAL OF THE PEDIATRIC INFECTIOUS DISEASES SOCIETY(2019)

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摘要
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.
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关键词
degranulation,familial hemophagocytic lymphohistiocytosis (FHL),hemophagocytic lymphohistiocytosis,natural killer cells
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