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 - Scorecard - 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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Clinical Scorecard: Case Study: Hyperinflammatory Response Induced by Cytomegalovirus in a Teenager with a Novel Gain-of-Function STING1 Variant Exhibiting Autosomal Dominant Inheritance and Unusual Symptoms

At a Glance

CategoryDetail
ConditionHyperinflammatory response due to Cytomegalovirus (CMV) infection
Key MechanismsGain-of-function mutation in STING1 leading to immune dysregulation
Target PopulationAdolescents with unexplained hyperinflammation
Care SettingPediatric and adolescent healthcare

Key Highlights

  • 18-year-old female with acute liver and kidney injuries post-CMV infection
  • Identified heterozygous dominant STING1 mutation (p. Arg281Trp)
  • Clinical profile suggested HLH-like syndrome despite not meeting HLH criteria
  • Partial improvement with antiviral and corticosteroid therapy
  • Case expands the phenotypic spectrum of STING1-related disorders

Guideline-Based Recommendations

Diagnosis

  • Consider genomic evaluation in cases of unexplained hyperinflammation

Management

  • Initiate targeted therapies such as JAK inhibitors for overactive interferon signaling

Monitoring & Follow-up

  • Monitor inflammatory markers and organ function during treatment

Risks

  • Potential for severe organ injury and complications from hyperinflammation

Patient & Prescribing Data

Adolescents with atypical presentations of STING1-related interferonopathies

Antiviral and corticosteroid therapy may provide clinical improvements

Clinical Best Practices

  • Recognize atypical forms of STING1-related disorders in adolescents
  • Timely molecular diagnosis is crucial for effective management
  • Document non-classical presentations to enhance understanding of STING1-related conditions

Related Resources & Content

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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