Case Report
On Two Cases with Autosomal Dominant Hyper IgE Syndrome: Importance of Immunological Parameters for Clinical Course and Follow-Up
Table 1
Hyper IgE Syndrome Scores and STAT3 mutation data.
| Symptoms | Patient 1 | Points | Patient 2 | Points |
| Highest IgE | 2180 IU/ml | 10 | 9740 IU/ml | 10 | Skin abscesses | 3-4 | 4 | 3-4 | 4 | Pneumonia | 2 | 4 | 2 | 4 | Parenchymal lung abnormalities | Pneumatocele | 8 | Pneumatocele | 8 | Other serious infection | Empyema and abscesses pulmonum | 4 | Abscesses retroperitonealis and subfrenicus dextra | 4 | Fatal infection | Absent | 0 | Peritonitis, perforation colon transversum | 4 | Highest eosinophils (109 L) | 0.94 | 6 | 0, 7 | 6 | Newborn rash | Absent | 0 | Absent | 0 | Eczema (worst stage) | Moderate | 2 | Moderate | 2 | Sinusitis/otitis | 1–3 | 1 | Absent | 0 | Candidiasis | Finger/nail | 2 | Systemic | 4 | Retained primary teeth | >3 | 8 | >3 | 8 | Scoliosis, max curve | Absent | 0 | Absent | 0 | Fractures with little trauma | Absent | 0 | Absent | 0 | Hyperextensibility | Absent | 0 | Absent | 0 | Characteristic face | Mild | 2 | Absent | 0 | Increased nose width (interallar distance) | 1-2 SD | 1 | Absent | 0 | High palate | Present | 2 | Present | 2 | Midline anomaly | Absent | 0 | Absent | 0 | Lymphoma | Absent | 0 | Absent | 0 | Young age add-on | <1 year | 7 | <1 year | 7 | SCORE | | 61 | | 63 | STAT3 mutations | NM_139276.2(STAT3):с.1850 G > A(p.Gly617Glu) | | NM_139276.2 (STAT3):c.1145 G > T (p.Arg382Leu) | |
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