Autoinflammatory & rare systemic diseases
Phenotypes of patients with more than one autoinflammatory disease-associated gene variant: overlapping and mixed autoinflammatory disorders
Authors' conclusion
The presence of multiple variants in autoinflammatory genes is a common finding in patients with SAID-like symptoms but does not always correlate with a known diagnosis.
Study context
- Population
- Patients who underwent genetic screening for systemic autoinflammatory disorders (SAIDs) carrying variants in ≥2 autoinflammatory genes (variants of uncertain significance (VUS) and pathogenic/likely pathogenic)44 with ≥2 gene variants
- Participants
- 149 patients
- Outcome
- Patients with ≥2 autoinflammatory gene variants and their phenotype classification
Methodological detailsretrospective analysis
- Retrospective analysis
Main finding
As reported in the abstract
- ≥2 gene variants, of 149 referred patients
- 44 (29.5%)
- Classified as familial Mediterranean fever (FMF)
- 15 (36.3%)
- VEXAS syndrome
- 1
- DADA2
- 2
- Haploinsufficiency (HA20)
- 1
- DADA2 and HA20 overlap
- 1
- NLRP1-AID
- 1
- NLRC4-AID
- 1
- NLRP1 and NLRC4-AID overlap
- 1
- PFAPA-like
- 2
- Behçet disease-like
- 7
- Could not be classified
- 12 (27.2%)
Observational data: associations, not effects.
Original publication
Phenotypes of patients with more than one autoinflammatory disease-associated gene variant: overlapping and mixed autoinflammatory disorders. Rheumatology (Oxford). Published 4 November 2025. doi:10.
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