significantGenetic finding

Novel MEFV/F2 gene variants in 748th Schnitzler case

Schnitzler Syndrome →

Summary

Case report from Hungary identified novel MEFV gene variant c.2084A>G and F2 gene variant. Strengthens pyrin-inflammasome hypothesis.

Related genes

MEFVc.2084A>G and p.(Glu148Gln)
MEFV encodes pyrin, an inflammasome inhibitor. Variants could lower the threshold for inflammasome activation.
F23′UTR c.*97G>A
Novel finding in the 748th reported case. F2 encodes prothrombin — role in inflammasome regulation unclear.

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