Table 2 Clinical characteristics of patients with DEF6 mutations
Patient (age) | P1 | P1 (1–4 m) | P1 (5–8 m) | P1 (9–10 m) | P1 (11–12 m) | P2 | P3 |
|---|---|---|---|---|---|---|---|
Neutrophil function | |||||||
Phagocytosis | normal (E. coli opson., | ||||||
S. pneumoniae opson.) | |||||||
Oxidative burst | normal | ||||||
Hemoglobin | 54 g/L (↓) (2 y 3 m) | ||||||
Vaccination response | |||||||
C. tetani | 0.73 IU/ml (>=0.4 IU/ml) | 0.06 IU/ml (>=0.4 IU/ml) | 0.05 IU/ml (>=0.4 IU/ml) | ||||
C. diphtheriae | 0.05 IU/ml (>=0.4 IU/ml) | 0.02 IU/ml (>=0.4 IU/ml) | 0.02 IU/ml (>=0.4 IU/ml) | ||||
S. pneumonia | 1:76 (>=1:200) | 1:20 (>=1:200) | 1:20 (>=1:200) | ||||
H. influenzae | 0.76 µg/ml (>=1 µg/ml) | 0.06 µg/ml (>=1 µg/ml) | 0.07 µg/ml (>=1 µg/ml) | ||||
B. pertussis | 0.6 VE (>=11 VE) | ||||||
Autoantibodies | |||||||
ANCA | Positive (1:160) | Positive (1:40) | |||||
Cardiolipin (IgG) | n.d. | Positive (12.1 U/ml) | |||||
Beta2-glycoprotein (IgG) (IgM) | Elevated (10.5 U/ml) Normal (4.9 U/ml) | Positive (28.8 U/ml) Positive (8 U/ml) | |||||
Direct Coombs test | Positive | ||||||
Recurrent infections | |||||||
Bacteria | S. pneumoniae, S. aureus, S. epidermis, E. aerogenes, E. cloacae, E. faecalis | E. aerogenes, K. oxytoca, S. epidermis, E. faecalis | |||||
Virus | Rhinovirus, influenza B, respiratory syncytial virus, rotavirus | Not specified | |||||
Fungi | Not specified | Malassezia furfur | |||||
