Autoinflammatory & rare systemic diseases
Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin‐Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti–Interleukin‐1 Therapy
An erratum to this article was published (Arthritis Rheumatol, Jul 2025 ↗)
Authors' conclusion
Our findings highlight the crucial role of early diagnosis and treatment with an anti-IL-1 agent in reversing cochlear damage.
Study context
- Population
- A family with autosomal-dominant progressive/acute sensorineural hearing loss (SNHL) and a novel NLRP3 missense variant of unknown significanceone family
- Participants
- 10 vs 5
- Comparison
- Heterozygous carriers of NLRP3 p.Ser595Asn vs healthy family members
- Heterozygousn = 10
- Healthy family membersn = 5reference
- Outcome
- Ex vivo NLRP3 inflammasome activation
Methodological detailsex vivo functional assessment of the NLRP3 inflammasome, family study
- Ex vivo functional assessment of the NLRP3 inflammasome
- Family study
Main finding
As reported in the abstract
NLRP3 inflammasome activity (ex vivo assay)
- Hyperactivation of the inflammasome among heterozygous individuals, supporting a pathogenic gain-of-function variant
Further findings
Clinical response to IL-1 receptor antagonist in pediatric patients · 1 to 3 months of treatment
- Substantial clinical improvement, with near resolution of hearing impairment
Original publication
Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin‐Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti–Interleukin‐1 Therapy. Arthritis Rheumatol. Published 9 January 2024. doi:10.
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