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 |