Table 2 Clinical characteristics of children with a clinical AID diagnosis without pathogenic gene variants
FMF N = 9 | CAPS N = 8 | PFAPA N = 14 | Unclassified AID N = 2 | |
|---|---|---|---|---|
Recurrent fever, N (%) | 8 (89%) | 8 (100) | 14 (100) | 2 (100) |
Elevates CRP/SAA in flares, N (%) | 9 (100) | 8 (100) | 14 (100) | 2 (100) |
Positive family history, N (%) | 4 (44) | 0 | 6 (43) | 0 |
Rashes, urticaria like rashes, N (%) | 0 | 6 (75) | 0 | 0 |
Cold/stress induced flares, N (%) | 0 | 3 (38) | 0 | 1 (50) |
Musculoskeletal pain, arthritis, N (%) | 5 (55) | 8 (100) | 7 (50) | 2 (100) |
Skeletal abnormalities, N (%) | 0 | 0 | 0 | 0 |
Breast pain, N (%) | 0 | 0 | 0 | 0 |
Abdominal pain, N (%) | 6 (67) | 3 (38) | 2 (14) | 1 (50) |
Diarrhoea, nausea, N (%) | 0 | 3 (38) | 0 | 0 |
Recurrent headaches, N (%) | 0 | 1 (13) | 0 | 1 (50) |
Chronic aseptic meningitis, N (%) | 0 | 0 | 0 | 0 |
Conjunctivitis, episcleritis, N (%) | 0 | 2 (26) | 0 | 0 |
Hearing loss, N (%) | 0 | 0 | 0 | 0 |
Aphthous stomatitis, tonsillitis, pharyngitis, N (%) | 0 | 0 | 14 (100) | 0 |
Cervical lymphadenopathy; N (%) | 0 | 0 | 13 (93) | 0 |