Somatic NLRP3 mosaicism in patients with 'mutation-negative' CAPS: insights from a single centre UK cohort
Melo Gomes S, Arostegui JI, Rowczenio DM, et al.
Front Pediatr · 2025
Grade Bcohort
Key Findings
- ●40% of mutation-negative CAPS have somatic mosaicism
- ●Allele frequencies as low as 1.9%
- ●Mosaicism can increase over time
Referenced in (1 disease)
ID: manual-s-2025-somatic-nlrp3-mosaicism