Objective:

To report a case of an 18-year-old female with acute liver and kidney injuries following cytomegalovirus infection.

Approach:

Key Findings:

• The patient developed an HLH-like syndrome without meeting HLH-2004 or H-score criteria.
• The identified STING1 mutation suggests a novel gain-of-function variant with autosomal dominant inheritance.
• The clinical presentation was atypical for STING-associated vasculopathy with onset in infancy (SAVI), lacking classic skin or lung manifestations.

Interpretation:

Limitations:

• The study is based on a single case, limiting generalizability.
• The incomplete penetrance and variable expression of the STING1 mutation complicate the understanding of its clinical implications.

Conclusion:

This case highlights the importance of recognizing atypical presentations of STING1-related interferonopathies.

Attribution Notice

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