Case Report: Genetically primed hyperinflammation: cytomegalovirus-triggered HLH-like syndrome in an adolescent with a gain-of-function STING1 (p.Arg281Trp) variant with novel autosomal dominant inheritance and atypical presentation.

Abstract excerpt

We report the case of an 18-year-old previously healthy female who developed acute liver and kidney injuries with cytopenia and hyperinflammatory markers following cytomegalovirus (CMV) infection. Despite not meeting the hemophagocytic lymphohistiocytosis (HLH)-2004 or H-score criteria, her clinical and biochemical profiles suggested an HLH-like syndrome. Whole-exome sequencing revealed a heterozygous dominant...

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