Autoinflammatory & rare systemic diseases
Transcriptome analysis of unmedicated heterozygous familial Mediterranean fever patients reveals a type I interferon signature driving increasing Pyrin expression
Authors' conclusion
These findings suggest that type I IFN signalling acts as a critical 'second hit', amplifying Pyrin expression in heterozygous individuals and enabling disease manifestation despite a single MEFV mutation.
Study context
- Population
- Unmedicated Familial Mediterranean fever (FMF) patients and healthy MEFV mutation carriers, peripheral blood mononuclear cells (PBMCs) isolated during asymptomatic, treatment-naïve phases
- Participants
- 10 vs 5
- Comparison
- Heterozygous FMF patients with classical phenotype vs healthy MEFV mutation carriers and homozygous/compound heterozygous patients
- FMFn = 10
- Healthy MEFV mutation carriersn = 5reference
- Outcome
- Differential transcriptomic profiles (differentially expressed genes) of PBMCs
Methodological detailstranscriptome profiling, immunoblotting
- Transcriptome profiling
- Immunoblotting
Main finding
As reported in the abstract
PBMC transcriptome
Differentially expressed genes
147
Original publication
Transcriptome analysis of unmedicated heterozygous familial Mediterranean fever patients reveals a type I interferon signature driving increasing Pyrin expression. Ann Rheum Dis. Published 28 August 2025. doi:10.
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