Table 4 Comparison of US, European and Asian patients with STAT3 mutations positive AD-HIGE
From: Hyper IgE recurrent infection syndrome in South Asia: is there a different outcome?
Clinical feature | US (n = 64) [16] | French (n = 60) [7] | Indian (n = 04) [8] | Japanese (n = 08) [14] | Sri Lankan (n = 05) | |
|---|---|---|---|---|---|---|
Age range | 1 month–46 years | 4 months–35 years | 1.7–26 years | 6–21 years | 5–15 years | |
% | % | % | % (n) | % (n) | % | |
Findings related to infections and immune system | ||||||
Moderate to severe eczema | 90.6 | nm | nm | 91.6 (11/12) | 87.5 (7/8) | 60 |
Serum IgE > 2000 IU/ml | nm | 96 | 100 | 75 (9/12) | 100 (8/8) | 100 |
Eosinophilia (> 2 SD above normal mean) | 70.7 | 80 | 75 | 91.6 (11/12) | 75 (6/8) | 60 |
Recurrent pneumonia, X-ray proven | 95 | nm | 50 | 75 (9/12) | 87.5 (7/8) | 40 |
Recurrent skin abscesses | 90.6 | nm | 50 | 100 (12/12) | 75 (6/8, 2 = 1–2 abscesses) | 80 |
Recurrent (> 3/year) upper respiratory infections | 45.8 | nm | nm | 71.4 (7/14) | 37.5 (3/8) | 80 |
Mucocutaneous candidiasis | 43.1 | 85 | nm | 58.3 (7/12) | 67.5 (5/8) | 40 |
Pneumatoceles | 74.6 | 52 | 25 | 66.6 (8/12) | 67.5 (5/8) | 60 |
Newborn rash | 64.9 | 48 | 50 | 66.6 (8/12) | 100 (8/8) | 60 |
Other serious infections | nm | 43 | 0 | 66.6 (8/12) | 25 (2/8) | 40 |
Lymphoma, other cancer | 03 | 7 | 0 | 0 | 0 | 0 |
Findings related to bones, teeth, and connective tissue | ||||||
Characteristic face | 90.6 | 95 | 75 | 91.6 (11/12) | 100 (8/8) | 60 |
Retained primary teeth | 80 | 65 | nm | 100 (5/5) | 37.5 (3/8) | 60 |
Hyperextensibility of joints | 52.7 | 50 | nm | 58.3 (7/12) | 50 (4/8) | 20 |
Increased nasal width (interalar distance > 1 SD above normal value for age, race) | 51.9 | 85 | nm | 80 (4/5) | 12.5 (1/8) | 20 |
Scoliosis > 10° | 26 | 38 | nm | 0 | 25 (2/8) | 60 |
Recurrent fractures following minor trauma | 45.8 | 42 | nm | 8.3 (1/12) | 25 (2/8) | 40 |
High-arched palate | 54.7 | 53 | nm | 33.3 (3/12) | 25 (2/8) | 40 |
Congenital skeletal anomalies | nm 10 | nm | nm | 0 | nm | 0 |
Focal hyperintensities on brain MRI | nm | < 1 | nm | nm | nm | ne |
Chiari type I malformation | nm | nm | nm | nm | nm | ne |
Coronary vasculature abnormalities | nm | nm | nm | nm | nm | ne |