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Summary of clinical features associated with lung disease in Trisomy 21-sJIA cases
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Trisomy 21
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Pre-Exposed
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sJIA-like
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sJIA
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PAP/ELP+1
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Trisomy 21
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Not Trisomy 21
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Number of cases
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2/6
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4/6
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5/5
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6/6
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40/55
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Age at sJIA onset (years)
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0.6, 2.5
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0.5, 1.6, 3.2, 9.9
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0.5, 0.6, 2.5, 3.2, 9.9
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0.5 to 9.9
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Median 2.3 (IQR:1.2-5.1)
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Prior to lung disease
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| MAS≧1 episode |
0/2
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0/4
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0/5
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0/6
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29/40 (73%)
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Period of disease quiescence on treatment2
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0/2
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1/4
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0/5
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1/6
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18/40 (45%)
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Atypical clinical findings occurring between 6 and 1 month prior to lung disease
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Atypical rash
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2/2
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2/4
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3/5
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4/6
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23/40 (58%)
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Acute clubbing
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1/2
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3/4
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3/5
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4/6
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31/40(78%)
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Lymphopenia <60% lower limit of normal3
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1/1
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3/4
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3/4
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4/5
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17/36(47%)
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Tocilizumab reaction
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1/2
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0/4
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1/4
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1/5
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13/28(46%)
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Peripheral eosinophilia w/in prior year4
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1/2
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2/4
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2/5
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3/6
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17/39(44%)
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Clinical features at lung disease
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Unexpected CT pattern(s) of diffuse lung disease5
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0/1
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4/4
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4/5
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4/5
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35/39 (90%)
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Hyper-enhancing lymph nodes on CT6
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0/1
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1/2
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1/3
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1/3
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11/24 (46%)
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Ferritin >1000ng/ml
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1/1
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2/4
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2/4
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3/5
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14/27 (52%)
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Overt MAS within prior 6 months
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0/1
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0/4
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0/4
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0/5
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11/40 (28%)
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Hypoxia
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2/2
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3/4
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4/5
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5/67
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14/40 (35%)7
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Abnormal chest auscultation
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2/2
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3/4
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4/5
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5/67
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5/40 (13%)7
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Viral infection
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1/2
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4/4
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4/5
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5/67
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11/40 (28%)7
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Pulmonary hypertension or vascular disease8
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1/2
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4/4
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4/5
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5/6
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17/40(43%)
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Features during lung disease
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MAS
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1/2
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2/4
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2/5
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3/6
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16/40(40%)
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Alive at data close
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1/2
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2/4
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2/5
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3/6
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28/40(70%)
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- 1Pathology on lung tissue evaluation showed pulmonary alveolar proteinosis/endogenous lipoid pneumonia
- 2At least one period of ≧6 weeks with ferritin normal for age, no MAS, no pulse steroids and oral steroids zero to <0.15m/k/d. Arthritis allowed
- 3Van Gent et al Refined characterization and reference values of the pediatric T- and B-cell compartments. Clin Immunol 2009;133:95-107
- 4Peripheral eosinophilia in Trisomy 21 cases occurred within 4 months prior to lung disease
- 5Omits patterns of crazy paving only or predominantly ground glass opacities (often seen with PAP/ELP pathology)
- 6Evaluable on contrast enhanced CT
- 7Significant difference by odds ratio (95% CI): Hypoxia 9.3(1,87), Abnormal chest auscultation 35(3.4,364), Viral infection 13.2(1.4,126)
- 8Pulmonary vascular disease on lung tissue and/or clinical pulmonary hypertension
