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 - Takeaways - MDSpire

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

  • By

  • Ehab Abdelbadeeh Hassan Hammad

  • Tariq Zulfiquar Ali

  • Dieter Clemens Broering

  • Hassan Ali Aleid

  • Quaid Johar Nadri

  • Rehab Salah Fathy Nasr

  • June 11, 2026

  • 0 min

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  • 1

    An 18-year-old female developed acute liver and kidney injuries with hyperinflammatory markers following cytomegalovirus infection.

  • 2

    Whole-exome sequencing identified a heterozygous dominant STING1 mutation (p. Arg281Trp) in the patient and her asymptomatic father.

  • 3

    The patient exhibited an atypical HLH-like syndrome without classic STING-associated vasculopathy symptoms, complicating diagnosis.

  • 4

    Immunological profiling revealed an inverted CD4/CD8 ratio and CD4+ lymphopenia, indicating underlying immune dysregulation.

  • 5

    The case expands the STING1 disease spectrum and highlights the need for genomic evaluation in unexplained hyperinflammation.

Original Source(s)

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

  • by Ehab Abdelbadeeh Hassan Hammad, Tariq Zulfiquar Ali, Dieter Clemens Broering, Hassan Ali Aleid, Quaid Johar Nadri, Rehab Salah Fathy Nasr

  • June 11, 2026

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