Table 2

Summary of clinical features of patients with somatic NLRP3 mosaicism at the onset of the disease

PtAge at disease onsetCold-exposure triggerUrticaria-like skin rashFeverJoint involvementCNS involvementAcute inflammatory response*First diagnoses
118 yearsYesYesArthralgiasYes
22 yearsYesArthralgiasYesJIA
31 weekYesYesChronic urticaria, So-JIA
414 yearsYesYesYesErythema nodosa
54 yearsYesYesYesArthralgiasYes
64 yearsYesYesYes†OligoarthritisYesOligo-JIA
77 months-YesYesOligoarthritisn.a.So-JIA, TRAPS
  • *Defined by increased values of white blood cells (normal range 4.00–11.00×103/dL), circulating neutrophils (normal range 45–75%), platelets (normal range 130–400×103/dL), C reactive protein (normal range <1 mg/dL) and/or erythrocyte sedimentation rate (normal <10 mm/h).

  • †Low-grade fever.

  • –, absent; CNS, central nervous system; JIA, juvenile idiopathic arthritis; n.a., not available; Pt, Patient; So-JIA, systemic-onset juvenile idiopathic arthritis; TRAPS, TNF receptor-associated periodic syndrome.