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
20emerging·8 studies
Pyrin-inflammasome dysfunction (MEFV variants) contributes to pathogenesis
15emerging·4 studies