MEFV

Genetic findings for MEFV in Schnitzler Syndrome

Variants (1)

Variant	Type	Frequency	Significance
c.2084A>G and p.(Glu148Gln)	germline	Emerging (2024-2025 reports)	MEFV encodes pyrin, an inflammasome inhibitor. Variants could lower the threshold for inflammasome activation.

Clinical implications

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

Potential genetic modifier. Significance uncertain.

Also found in: Familial Mediterranean Fever (Causative (homozygous/compound het))

Related hypotheses

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

emerging·8 studies

Pyrin-inflammasome dysfunction (MEFV variants) contributes to pathogenesis

emerging·4 studies

Sources (1)

DetailsMűzes G et al. (2025) Background and Clinical Features of a Unique and Mysterious Autoinflammatory Disease, Schnitzler Syndrome · Int J Mol SciDOI ↗