Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implications

This study highlights the importance of considering NLRP3 mosaicism as an underlying pathological mechanism in chronic urticarial lesions, whether of early or late onset, and whether isolated or mimicking other conditions. As blood contains key target cells for NLRP3 inflammasome activation, even extremely low-level leucocyte mosaicism can be pathogenic. High-depth NGS-based diagnosis of NLRP3-related disorders enables timely initiation of anti-IL-1 therapy, which is crucial to preventing complications such as systemic amyloidosis.