Autoinflammatory & rare systemic diseases
TNFRSF11A variants contribute to systemic autoinflammatory diseases: A case series of 12 patients
Authors' conclusion
TNFRSF11A variants, occurring in 7% of SAID patients always in combination with other SAID-related gene variants, contribute to the development of an autoinflammatory syndrome resembling to TRAPS.
Study context
- Population
- Patients with systemic autoinflammatory diseases (systemic autoinflammatory disease (SAIDs)) screened for 26 related genes12 with TNFRSF11A variant
- Participants
- 167 patients
- Outcome
- Prevalence of TNFRSF11A variants and phenotypic expression of disease
Methodological detailsgenetic screening for 26 SAID-related genes
- Genetic screening for 26 SAID-related genes
Main finding
As reported in the abstract
Prevalence of at least one TNFRSF11A rare variant
- Patients with at least one TNFRSF11A rare variant
- 12 out of 167
- Patients carrying a coexisting variant in at least one other SAID-related gene (most frequently MEFV, 6 patients; also TNFRSF1A, NOD2, NLRP3, NLRP7, MVK, IL36RN, RBCK1, PLCG2, PSMB8)
- All
Observational data: associations, not effects.
Further findings
Phenotype of SAID episodes in TNFRSF11A variant carriers
- Episode duration (median), days
- 9
- High grade fever
- 91%
- Myalgias
- 75%
- Malaise
- 67%
- Serositis
- 58%
- Arthralgias/arthritis
- 58%
- Gastrointestinal involvement
- 33%
- Rash
- 25%
- Responded to corticosteroids
Final diagnoses
- TRAPS (most common initial diagnosis) confirmed
- 1
- Atypical Familial Mediterranean Fever (MEFV variations)
- 2
- Yao syndrome speculated (NOD2 variants)
- 2
- Atypical disease / no defined diagnosis
- 7
Original publication
TNFRSF11A variants contribute to systemic autoinflammatory diseases: A case series of 12 patients. Semin Arthritis Rheum. Published 2 July 2024. doi:10.
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