NLRP3
Genetic findings for NLRP3 in Schnitzler Syndrome
Variants (2)
| Variant | Type | Frequency | Significance |
|---|---|---|---|
| Somatic mosaicism (various) | somatic | Rare (2 confirmed cases) | Found in patients with the most severe phenotypes. Demonstrates that NLRP3 can be directly causative in some cases. |
| V198M | germline | 1 family studied | Found in 1 patient but 4 asymptomatic carriers across 3 generations — insufficient alone to cause disease. |
Clinical implications
Somatic mosaicism (various)
Supports inflammasome-driven model. Does not currently change treatment approach.
Also found in: CAPS (Nearly all cases (germline))
V198M
Low-penetrance variant. Not diagnostic on its own.
Also found in: CAPS (mild forms) (Occasional)
Related molecules
NLRP3strong
Inflammasome sensor — Dysregulated
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