Table 1. Clinical phenotype of STAT3-deficient patients.
+, present; −, absent; CMC, chronic mucocutaneous candidiasis.
| Subjects | Age† (y) | Sex | STAT3 mutation | Infections | Connective tissue signs | Immunological signs | Other findings | References | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Skin | Bacterial | Oral | CMC | Aspergillus | Abscesses | Eczema | Pneumonia | Tooth retention | Facial features | Fractures | Hyperextensibility | Vascular abnormalities | IgE (IU/ml) | Eosinophils (cells/μl) | ||||||
| P1 | 44 | M | Y657* | + | − | + | − | − | + | − | − | − | − | − | − | − | 600–700 | − | Asthma, Chronic dysentery | This work |
| P2 | 6 | F | Y657* | + | + | + | − | − | + | + | + | + | + | + | − | + | 15850 | 4712 | Allergic Rhinitis, Food allergies | This work |
| P3 | 37 | M | c.1140-3C > G | − | − | + | − | + | − | − | − | − | − | − | − | − | 1003 | 100–1090 | Sino-Orbital Aspergillosis, Allergic Rhinitis | Natarajan et al. (45) |
| P4 | 35 | M | ΔEx13 | + | + | + | − | − | − | + | + | + | − | + | + | − | 17028 | 2400 | Asthma | Anolik et al. (19) |
| P5 | 10 | F | ΔEx14 | − | − | − | − | − | + | + | + | − | + | − | − | − | 55400 | 1164 | Alopecia totalis | Al Khatib et al. (13) |
| P6 | 45 | M | F561del | − | − | − | − | − | − | + | − | − | − | − | − | − | 2168 | 2900 | Invasive dermatophyte infection | Simpson et al. (21) |
†As described in each publication and at the moment of diagnosis for the patients described in this work.