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Table 1 Phenotypes associated with NLRP3 V198M variant and response to treatment

From: Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature

Kindred/subjects Syndrome Age at presentation (years) Median SAA Pre/post treatment Median CRP Pre/post treatment Treatment Mutations in other genes: MEFV, TNFRSF1A, and MVK
Family 1/Subject 1 CAPS (MWS/FCAS/CINCA) Neonatal 193/3 42/1 Anakinra CR None
Family 1/Subject 2 CAPS (MWS/FCAS/CINCA) Neonatal 121/2 56.5/1 Anakinra CR None
Family 1/Subject 3 CAPS (MWS/FCAS/CINCA) Neonatal 133/3 42/1 Anakinra CR None
Family 1/Subjects 13 and 14 Asymptomatic carriers - 8 4 ND ND
Family 2/Subject 4 CAPS (FCAS-type features) 11 ND / 3 ND / 1 Canakinumab CR None
Family 2/Subjects 15 and 16 Asymptomatic carriers - 3 1 ND ND
None/Subject 5 CAPS (MWS-type features) 3 52/ND ND ND None
Family 3/Subject 6 Schnitzler syndrome 57 299/6 156/1 Anakinra CR None
Family 3/Subjects 17 and 18 Asymptomatic carriers - 2 2 ND ND
None/Subject 7 Positive rheumatoid factor polyarthritis 16 174 Lost to F/U 20 Lost to F/U Anti-TNF therapy CR None
None/Subject 8 Inflammatory syndrome 9 88/ND 16/ND ND None
None/Subject 9 Inflammatory syndrome 6 months ND 133/ND ND None
Family 4/Subject 10 Undiagnosed chronic inflammatory syndrome 7 91.5/NR to treatment 54/NR to treatment Anakinra NR MEFV E148Q
Family 4/Subject 19 Asymptomatic carrier - 3 2 ND ND
None/Subject 11 MKD Before 10 70/2 21/11 Anakinra PR MVK H44fs/V377I
None/Subject 12 TRAPS complicated by AA amyloidosis 3 236.5/4 53.5/4 Anakinra CR TNFRSF1A Y38S
  1. CR, complete response; ND, not done; NR, no response; PR, partial response.