Table 3

Summary of clinical manifestations detected in patients with somatic NLRP3 mosaicism during the course of the disease

PtSex (Age)Cold-exposure triggerUrticaria-like skin rashFeverJoint involvementCNS involvementDeafness (age at onset)Ocular involvementAA amyloidosis
Type of arthritisInvolved jointsSymmetricErosiveArthropathyHeadacheAseptic meningitisPapilloedema
1M (39 years)YesYesPolyarthritisLarge and smallYes (38 years)Conjunctivitis
2M (14 years)YesYesYesYes (7 years)
3F (12 years)YesMonoarthritisLargeYesYes (6 years)
4F (41 years)YesYesPolyarthritisSmallYesConjunctivitis
5M (64 years)Yes*YesYes†PolyarthritisLarge and smallYes (45 years)
6F (16 years)Yes†YesYesOligoarthritisLargeYesConjunctivitis
7M (16 years)YesYesOligoarthritisLargeYesYes (13 years)Conjunctivitis
  • *Always.

  • †Occasionally.

  • –, No or absent; AA, serum amyloid A protein; CNS, central nervous system; F, female; M, male; Pt, Patient.