Autoinflammatory & rare systemic diseases
NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study
Authors' conclusion
This is the largest cohort of NLRP12-AID in the world and seven novel variants of NLRP12 were identified. Chinese adult patients of NLRP12-AID had more non-specific symptoms such as pharyngitis/tonsillitis and lymphadenopathy when compared with patients from other countries, for which the less occurrence of exon-3 variants might be one possible reason.
Study context
- Population
- Chinese adult patients with NLRP12-associated autoinflammatory disease, single centre20 cohort, 50 from other countries
- Participants
- 70 patients
- Exposure
- Chinese adult NLRP12-AID patients vs NLRP12-AID patients from other countries (literature review); non-exon-3 vs exon-3 variant carriers
- Chinesen = 20
- Other countriesn = 50reference
- Outcome
- Phenotypes and genotypes of NLRP12-AID
Methodological detailssingle-centre, whole-exome sequencing
- Single-centre
- Whole-exome sequencing
Main finding
As reported in the abstract
Phenotypes and genotypes
NLRP12 variants detected
13
Novel variants of NLRP12 identified
7
Observational data: associations, not effects.
Further findings
Treatment and response
- GC use (patients)
- 14
- Immunosuppressive agents (patients)
- 13
- Tocilizumab (patients)
- 2
- Good response to therapy (patients)
- 17
Chinese vs other countries
- Chinese patients had fewer variants in exon 3, higher incidences of cutaneous rash, pharyngitis/tonsillitis and lymphadenopathy
Non-exon-3 vs exon-3 variant carriers (all 70 patients)
- Non-exon-3 variant carriers had higher frequencies of ocular involvement, pharyngitis/tonsillitis, headache and lymphadenopathy
Original publication
NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study. RMD Open. Published 20 December 2023. doi:10.
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