Summary of clinical features associated with lung disease in Trisomy 21-sJIA cases | |||||
---|---|---|---|---|---|
Trisomy 21 | Pre-Exposed | ||||
sJIA-like | sJIA | PAP/ELP+1 | Trisomy 21 | Not Trisomy 21 | |
Number of cases | 2/6 | 4/6 | 5/5 | 6/6 | 40/55 |
Age at sJIA onset (years) | 0.6, 2.5 | 0.5, 1.6, 3.2, 9.9 | 0.5, 0.6, 2.5, 3.2, 9.9 | 0.5 to 9.9 | Median 2.3 (IQR:1.2-5.1) |
Prior to lung disease | |||||
 MAS≧1 episode | 0/2 | 0/4 | 0/5 | 0/6 | 29/40 (73%) |
 Period of disease quiescence on treatment2 | 0/2 | 1/4 | 0/5 | 1/6 | 18/40 (45%) |
 Atypical clinical findings occurring between 6 and 1 month prior to lung disease | |||||
 Atypical rash | 2/2 | 2/4 | 3/5 | 4/6 | 23/40 (58%) |
 Acute clubbing | 1/2 | 3/4 | 3/5 | 4/6 | 31/40(78%) |
 Lymphopenia <60% lower limit of normal3 | 1/1 | 3/4 | 3/4 | 4/5 | 17/36(47%) |
 Tocilizumab reaction | 1/2 | 0/4 | 1/4 | 1/5 | 13/28(46%) |
 Peripheral eosinophilia w/in prior year4 | 1/2 | 2/4 | 2/5 | 3/6 | 17/39(44%) |
Clinical features at lung disease | |||||
 Unexpected CT pattern(s) of diffuse lung disease5 | 0/1 | 4/4 | 4/5 | 4/5 | 35/39 (90%) |
 Hyper-enhancing lymph nodes on CT6 | 0/1 | 1/2 | 1/3 | 1/3 | 11/24 (46%) |
 Ferritin >1000ng/ml | 1/1 | 2/4 | 2/4 | 3/5 | 14/27 (52%) |
 Overt MAS within prior 6 months | 0/1 | 0/4 | 0/4 | 0/5 | 11/40 (28%) |
 Hypoxia | 2/2 | 3/4 | 4/5 | 5/67 | 14/40 (35%)7 |
 Abnormal chest auscultation | 2/2 | 3/4 | 4/5 | 5/67 | 5/40 (13%)7 |
 Viral infection | 1/2 | 4/4 | 4/5 | 5/67 | 11/40 (28%)7 |
 Pulmonary hypertension or vascular disease8 | 1/2 | 4/4 | 4/5 | 5/6 | 17/40(43%) |
Features during lung disease | |||||
 MAS | 1/2 | 2/4 | 2/5 | 3/6 | 16/40(40%) |
 Alive at data close | 1/2 | 2/4 | 2/5 | 3/6 | 28/40(70%) |