Autoinflammatory & rare systemic diseases
TNRSF1A-pR92Q variant identifies a subset of patients more similar to systemic undifferentiated recurrent fever than TNF receptor-associated periodic syndrome
Authors' conclusion
Patients with AID carrying the TNFRSF1A-pR92Q variant behave more like SURF patients and differ from patients diagnosed with classical TRAPS and PFAPA in clinical phenotype.
Study context
- Population
- Autoinflammatory disease (AID) patients from the Eurofever international multicentre registry
- Participants
- 361 patients
- Exposure
- pR92Q variant AID vs classical TRAPS, PFAPA and syndrome of undefined recurrent fever (SURF)
- pR92Qn = 77reference
- Classical TRAPSn = 72
- PFAPAn = 152
- SURFn = 60
- Outcome
- Clinical phenotype and response to treatment
Methodological detailsinternational, multicentre, Eurofever registry
- International
- Multicentre
- Eurofever registry
Main finding
As reported in the abstract
- pR92Q carriers had an older age of disease onset than classical TRAPS and PFAPA
- Classical TRAPS had more relatives affected and were more likely to have migratory rash and AA-amyloidosis than pR92Q
- Part of pR92Q patients had PFAPA-like symptoms, despite several differences vs PFAPA
- pR92Q and SURF showed a comparable clinical phenotype
- No major differences in response to treatment between the four groups
- Steroids most often prescribed and effective in the majority
Observational data: associations, not effects.
Original publication
TNRSF1A-pR92Q variant identifies a subset of patients more similar to systemic undifferentiated recurrent fever than TNF receptor-associated periodic syndrome. Clin Exp Rheumatol. Published 7 June 2022. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →