Schnitzler syndrome IgG-kappa variant with MEFV p.(Glu148Gln)
Lopez-Gonzalez M, et al.
Actas Dermosifiliogr · 2024
Key Findings
- ●IgG-kappa variant with heterozygous MEFV p.(Glu148Gln) variant of uncertain significance
- ●MEFV encodes pyrin, an inflammasome inhibitor
Referenced in (1 disease)
Validation history
Full log →No validation events recorded yet. Source will be checked on the next kipine-source-validator run.
ID: manual-m-2024-schnitzler-syndrome-iggkappa