NLRP12-associated autoinflammatory disease: much more than the FCAS phenotype
Authors' conclusion
In conclusion, the disease can cause effects on various tissues, especially the musculoskeletal and gastrointestinal systems, apart from FCAS symptoms.
Study context
- Population
- Children with preliminary diagnosis of systemic autoinflammatory disease (SAID) other than familial Mediterranean fever (FMF) and PFAPA evaluated with next-generation-sequence (NGS) genetic panel, January 2016–January 2022
- Participants
- 17 children
- Outcome
- Clinical manifestations
Methodological detailspaediatric, NGS genetic-panel analysis
- Paediatric
- NGS genetic-panel analysis
Main finding
As reported in the abstract
- Fever
- 100%
- Arthritis/arthralgia
- 58.8%
- Rash
- 52.9%
- Abdominal pain
- 52.9%
- Diarrhoea
- 41.2%
- Myalgia/fatigue
- 53.2%
- Conjunctivitis
- 11.7%
- Triggered by cold exposure (patients)
- 3 (17.6%)
Observational data: associations, not effects.
Further findings
Age at diagnosis
- Mean age at diagnosis (months)
- 114.7±69.5
Clinical manifestations triggered by cold exposure
- Patients with cold-triggered manifestations
- 3 (17.6%)
NLRP12 variant classification
- Pathogenic
- 7
- Likely pathogenic
- 1
- VUS
- 7
- Novel heterozygous
- 2
- Most common defined variant
- R352C
Response to treatment
- Complete response with colchicine
- 5
- Partial response with colchicine
- 6
- Attacks prevented with anti-IL-1 treatment in colchicine-unresponsive patients
- 6
Original publication
NLRP12-associated autoinflammatory disease: much more than the FCAS phenotype. Clin Exp Rheumatol. Published 28 July 2023. doi:10.
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