Autoinflammatory & rare systemic diseases
Beyond NLRP3: expanding the spectrum of NLR-associated autoinflammatory diseases
Authors' conclusion
Patients carrying rare non-NLRP3 NLR variants demonstrated a broad and overlapping spectrum of systemic autoinflammatory phenotypes, frequently marked by mucocutaneous involvement.
Study context
- Population
- Patients referred for systemic autoinflammatory diseases (SAIDs) and harbouring NLR-variants70% female
- Participants
- 33 patients
- Exposure
- NLRP1 vs NLRP7 vs NLRP12 vs NLRC4
- Outcome
- Clinical phenotypes of NLR-variant carriers
Methodological detailstargeted next-generation sequencing, ACMG variant interpretation
- Targeted next-generation sequencing
- ACMG variant interpretation
Main finding
As reported in the abstract
- Recurrent fever the predominant manifestation, frequently with musculoskeletal symptoms and prominent mucocutaneous findings (erythematous and urticarial rashes, erythema nodosum-like lesions, oral aphthae, conjunctivitis)
- NLRP1 variants: often FMF-like features (recurrent fever, serositis), occasionally autoimmune features
- NLRP7 variants: recurrent febrile episodes with mucocutaneous involvement
- NLRP12 variants: typically periodic fever syndromes and maculopapular or erythema nodosum-like lesions
- NLRC4 variants: episodic systemic inflammation with gastrointestinal involvement and atypical cutaneous manifestations (erysipelas-like erythema, angioedema)
- Coexisting MEFV variants identified in a subset
Observational data: associations, not effects.
Further findings
Treatment response
- Responded to colchicine
- Approximately one-third
- Required IL-1 blockade
- another third
Original publication
Beyond NLRP3: expanding the spectrum of NLR-associated autoinflammatory diseases. Rheumatology (Oxford). Published 17 September 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →