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Table 2 Clinical features of AID patient cohort

From: Clinical and psychological phenomenology of pain in autoinflammatory diseases

  All NLRP3 low penetrance variants MEFV low penetrance variants TNFRSF1A low penetrance variants
Disease course
 -Recurrent 14 (64%) 7 (32%) 5 (23%) 2 (9%)
 -Chronic 0 0 0 0
 -Chronic with flares 8 (36%) 4 (18%) 2 (9%) 2 (9%)
Age at disease onset (y) 28 ± 4 36 ± 4 18 ± 3 31 ± 5
Diagnostic latency (y) 11 ± 4 8 ± 2 14 ± 3 12 ± 7
Positive family history 14 (64%) 4 (18%) 6 (27%) 4 (18%)
Organ involvement
 -Musculoskeletal 18 (82%) 7 (32%) 5 (23%) 6 (27%)
 -Eyes 9 (41%) 5 (23%) 2 (9%) 2 (9%)
 -Skin 12 (55%) 5 (23%) 2 (9%) 5 (23%)
 -Gastrointestinal tract 14 (64%) 4 (18%) 5 (23%) 5 (23%)
 -CNS 17 (77%) 8 (36%) 4 (18%) 5 (23%)
Constitutional symptoms
 -Fatigue 13 (59%) 7 (32%) 2 (9%) 4 (18%)
 -Fever 12 (55%) 4 (18%) 4 (18%) 4 (18%)
Elevation of inflammatory markers
 -SAA 14 (64%) 6 (27%) 4 (18%) 4 (18%)
 -CRP 8 (36%) 2 (9%) 5 (23%) 1 (5%)
 -Leukocytosis 10 (46%) 6 (27%) 2 (9%) 2 (9%)
CSF (n = 11)
 -Abnormal 8 (36%) 5 (23%) 1 (5%) 2 (9%)
MRI (n = 16)
 -Abnormal 10 (46%) 7 (32%) 1 (5%) 2 (9%)
AID specific treatment
 -Colchicine 4 (18%) 0 (0%) 3 (14%) 1 (5%)
 -Anti IL-1 therapy 10 (46%) 6 (27%) 1 (5%) 3 (14%)