incrementalGenetic finding

Low-level NLRP3 mosaicism extends Schnitzler phenotypic spectrum

Schnitzler Syndrome →

Summary

Daskalopoulou et al. (2025) detected low-level somatic NLRP3 mosaicism in four patients with chronic urticarial lesions including Schnitzler syndrome cases, extending the phenotypic spectrum of NLRP3-related disorders. Findings support considering NLRP3 inhibitor therapy in select Schnitzler-spectrum patients.

Related genes

NLRP3Somatic mosaicism (various)
Found in patients with the most severe phenotypes. Demonstrates that NLRP3 can be directly causative in some cases.
NLRP3V198M
Found in 1 patient but 4 asymptomatic carriers across 3 generations — insufficient alone to cause disease.

Source

Grade Bcohort

Clinical and laboratory markers to distinguish VEXAS from Schnitzler syndrome: data from the AIDA network registries

Caggiano V, Sbalchiero G, et al. · Front Med · 2025

  • •Identifies clinical and laboratory markers to distinguish VEXAS from Schnitzler syndrome
DetailsDOI ↗

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ID: schnitzler-syndrome-update-7Type: genetic_findingImpact: incremental