Table 1

Phenotypes associated with NLRP3 V198M variant and response to treatment

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


CR, complete response; ND, not done; NR, no response; PR, partial response.

Rowczenio et al. Arthritis Research & Therapy 2013 15:R30   doi:10.1186/ar4171

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