Table 1 (abstract P307). See text for description
From: Proceedings of the 25th European Paediatric Rheumatology Congress (PReS 2018)
| Â | PTS with consensus | PTS with no consensus | ||
|---|---|---|---|---|
Pts | Genetic classific. | Pts | Genetic classific. | |
FMF | 36 | Conf/cons 27 (75%) | 15 | Conf/cons 3 (20%) |
Unc. signif 1 (3%) | Not class 2 (13%) | |||
Not class 1 (3%) | Not confirm 10 (67%) (9 heteroz for P variants) | |||
Not confirm 7 (19%) (7 heteroz for P variants) | ||||
MKD | 56 | Conf/cons 50 (96%) | 3 | Conf/cons 1 (33%) |
Not confirm 2 (4%) (2 heteroz for P variants) | Not confirm 2 (67%) (2/3 heteroz for P variants) | |||
CAPS | 32 | Conf/cons 27 (84%) | 19 | Unc. signif 13 (68%) (Q703K,V198M) |
Unc. signif 1 (3%) (V198M) | Not confirm 6 (32%) (genetic NEGATIVE) | |||
Not class 4 (13%) | ||||
TRAPS | 39 | Conf/cons 36 (93%) | 1 1 | Conf/cons 2 (18%) |
Unc. signif 2 (5%) (R92Q,D12E) | Unc. signif 7 (64%) (R92Q,P46L) | |||
Not class 1 (2%) | Not confirm 1 (9%) (genetic NEGATIVE) | |||
Not class 1 | ||||
UNDEF. | 81 | Conf/cons: 1 for MVK | 14 | Unc. signif: 2 for TNFRSF1A, 3 for NLRP3 |
Unc. signif 2 for MEFV | Not confirm 1 for MEFV | |||
Not confirm: 9 for MEFV, 7 for NLRP3, 8 for TNFRSF1A | ||||
PFAPA | 37 | Unc. signif (1 for NLRP3, 3 for TNFRSF1A) | 17 | Unc. signif: 1 for NLRP3, 1 for TNFRSF1A |
Not confirm: 3 for MEFV | Not confirm: 2 for MEFV, 1 for MVK | |||