From Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Authors' conclusion
Our findings highlight the clinical and molecular diversity of interferonopathies and underscore the possible diagnostic utility of CXCL10 levels.
Study context
- Population
- Patients with clinical or genetic findings consistent with type I interferonopathies (suspected enhanced IFN-I signaling)
- Participants
- 46 patients
- Exposure
- Genetically confirmed vs Undifferentiated interferonopathies
- Outcome
- Molecular diagnosis rate and IFN signature positivity
Main finding
As reported in the abstract
- Molecular diagnosis established
- 37 of 46 (80%)
- IFN signature positive (of 34 evaluable)
- 31 of 34 (91%)
- Median IFN score higher in patients
- P < 0.0001
- CXCL10 levels higher in patients and correlated with IFN scores
- rs = 0.4994, P = 0.0026
Observational data: associations, not effects.
Original publication
From Interferon Signature to the Clinical Landscape: Type I Interferonopathies. Arthritis Rheumatol. Published 22 June 2026. doi:10.
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