Gene

MEFV

1 variant(s) documented across Schnitzler Syndrome

Variants

VariantTypeFrequency in diseaseSignificanceAlso found in
c.2084A>G and p.(Glu148Gln)germlineEmerging (2024-2025 reports)MEFV encodes pyrin, an inflammasome inhibitor. Variants could lower the threshold for inflammasome activation.Familial Mediterranean Fever (Causative (homozygous/compound het))

Clinical implications

c.2084A>G and p.(Glu148Gln)

Potential genetic modifier. Significance uncertain.

Testing: Sanger sequencing, NGS panels

Related hypotheses

NLRP3 somatic mosaicism is the primary driver in a subset of patients

20
emerging·8 studies

Pyrin-inflammasome dysfunction (MEFV variants) contributes to pathogenesis

15
emerging·4 studies

Sources (1)

C7Kanabaj K et al. (2025) 748th case: novel MEFV and F2 gene variantsDOI ↗