Table 4

Comparison of main clinical data of patients carrying germline versus somatic NLRP3 mutations

Clinical featuresPatients with germline NLRP3 mutations (n:41)Patients with somatic NLRP3 mutations (n:7)p Value
Age at disease onset (years)—median (IQR)0.5 (0.0–4.4)4.0 (1.3–9.0)n.s. (p=0.223)
Delay of diagnosis (years)—median (IQR)33.0 (10–49)20 (12–26)n.s. (p=0.416)
Presence of familial history of the disease (%)65.90p=0.002
Cold exposure as disease triggering factor (%)36.628.6n.s. (p=1.000)
Fever (%)63.471.4n.s. (p=1.000)
Urticaria-like skin rash (%)87.8100n.s. (p=1.000)
Joint involvement
 Arthralgias (%)80.585.7n.s. (p=1.000)
 Arthritis (%)53.785.7n.s. (p=0.214)
Neurological involvement
 Headache (%)56.171.4n.s. (p=0.683)
 Aseptic meningitis (%)29.314.3n.s. (p=0.656)
 Papilloedema (%)12.20n.s. (p=1.000)
Ocular involvement
 Conjunctivitis (%)61.057.1n.s. (p=1.000)
 Uveitis (%)17.10n.s. (p=0.573)
Sensorineural deafness (%)68.371.4n.s. (p=1.000)
Age at onset of deafness (years)—median (IQR)7.0 (5.5–11)13.0 (7–38)n.s. (p=0.210)
AA amyloidosis (%)17.10n.s. (p=0.573)
  • Patients with germline mutations were carriers of one of the next NLRP3 mutations: p.R170S (c.508 C>A), p.R260W (c.778 C>T), p.V262A (c.785 T>C), p.D303N (c.907 G>A), p.H312P (c.935 A>C), p.T348M (c.1043 C>T), p.A439T (c.1315 G>A), p.A439V (c.1316 C>T), p.F443L (c.1329 C>G), p.E567A (c.1700 A>C) and p.Y859C (c.2576 A>G).

  • AA, serum amyloid A protein; n.s., not significant differences.