Clinical Report: Hyperinflammatory Response Induced by Cytomegalovirus

Overview

This case study describes an 18-year-old female with acute liver and kidney injuries following cytomegalovirus infection, linked to a novel gain-of-function STING1 variant. The findings suggest a hyper-inflammatory response despite the absence of classic hemophagocytic lymphohistiocytosis criteria.

Background

STING-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory disorder caused by mutations in the STING protein, leading to systemic inflammation. This case highlights the variability in SAVI presentations, particularly in adolescents, and underscores the need for genomic evaluation in cases of unexplained hyperinflammation. Recognizing atypical forms of STING1-related disorders is crucial for timely diagnosis and management.

Data Highlights

Key Findings

• The patient exhibited a novel heterozygous STING1 mutation (c.841C>T; p. Arg281Trp).
• Clinical presentation included acute liver and kidney injuries without classic SAVI symptoms.
• Immunological profiling revealed an inverted CD4/CD8 ratio and absolute CD4+ lymphopenia.
• Partial improvement was noted following antiviral and corticosteroid therapy.
• This case suggests incomplete penetrance and variable expression of the STING1 mutation.

Clinical Implications

This case emphasizes the importance of considering genetic factors in adolescents presenting with hyperinflammation. Early genomic evaluation can facilitate targeted therapies and improve patient outcomes.

Conclusion

The identification of a novel STING1 variant in this case broadens the understanding of STING1-related disorders and highlights the need for awareness of atypical presentations in clinical practice.

Related Resources & Content

1. New England Journal of Medicine, 2025 -- Hemophagocytic Lymphohistiocytosis
2. Clinical and Experimental Medicine, 2025 -- Assessing the effectiveness of etoposide treatment in adult haemophagocytic lymphohistiocytosis
3. PMC, 2021 -- The 2021 EULAR and ACR points to consider for diagnosis and management of autoinflammatory type I interferonopathies
4. Infection — A Case Study of a 38-Year-Old Female with Necrotizing Cervical Lymphadenitis Induced by Histoplasma capsulatum
5. Infection — Cervical Infection Caused by Mycobacterium genavense in a Patient with Lymphadenitis and Undiagnosed Anti-IFN-γ IgG Autoantibodies
6. Infection — Severe Hepatitis and Cytokine Storm Associated with Herpes Simplex Virus Type 2 in Pregnant Patients
7. conexiant — Connecting the Diagnostic Dots in HIES
8. Hemophagocytic Lymphohistiocytosis | New England Journal of Medicine
9. Assessing the effectiveness of etoposide treatment in adult haemophagocytic lymphohistiocytosis: a systematic review and meta-analysis | Clinical and Experimental Medicine | Springer Nature Link
10. The 2021 EULAR and ACR points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS - PMC