Table 1.
Frequency of clinical manifestations of STAT3-HIES from published cohorts
| Overall | France (2012) [31] | USA (2016) [3]* | Shanghai, China (2017) [49] | Iran (2019) [119] | Italy (2019) [30] | Chongqing, China (2020) [48] | Fudan, China (2020) [120] | India (2021) [58] | Arora et al. [79] | |
|---|---|---|---|---|---|---|---|---|---|---|
| Demographics | ||||||||||
| Cohort size (patients) | – | 60 | 85 | 17 | 19 | 28 | 20 | 11 | 27 | 70 |
| Mean age at symptom onset (months) | 13.9 | 10.5 | 24 | 12 | 4.8 | 11.5 | 1.5 | 1.9 | – | – |
| Median age at diagnosis (years) | 10.2 | 6.8 | 13.8 | 12 | 6 | 14.7 | 5.3 | 4.7 | 9.8 | – |
| Mortality (patients) | 17/235 | 4/60 | 3/83 | 3/17 | – | 1/28 | 3/20 | – | 3/27 | – |
| Dermatological | ||||||||||
| Dermatological symptom as first manifestation (%) | 70.0 | 70 | – | 100 | 78 | 43 | – | – | 77.8 | – |
| Eczema (%) | 92.0 | 92 | 57.7 | 100 | 89.4 | 88.5 | 100 | 100 | 37 | – |
| Skin abscess (%) | 73.0 | 73 | 74 | 53 | 84 | 78 | 85 | 54.6 | 77.8 | – |
| Chronic mucocutaneous candidiasis (%) | 85.0 | 85 | – | 53 | 42 | 70 | 70 | 45.5 | – | – |
| Respiratory | ||||||||||
| Pneumonia (%) | 90.0 | 90 | 72 | 100 | 84.2 | 60 | 95 | – | 62.9 | – |
| Bronchiectasis (%) | 65.0 | 65 | 24.7 | 17.7 | 21.1 | 53.4 | 15 | – | – | – |
| Pneumatocele (%) | 52.0 | 52 | 18.8 | 41.2 | 68.4 | 39.4 | 50 | – | 25.9 | – |
| Surgical intervention (%) | 22.0 | 22 | 33 | 23.5 | – | 35.7 | 30 | 18.2 | – | – |
| Connective tissue | ||||||||||
| Facial dysmorphism (%) | 95.0 | 95 | – | 100 | – | 84 | 100 | 27.3 | 55.5 | – |
| Retained primary teeth (%) | 65.0 | 65 | 41.4 | 90.9 | 68.4 | 65.4 | 25 | 27.3 | 7.4 | – |
| Scoliosis (%) | 38.0 | 38 | 34.1 | 5.9 | 42.1 | 42.3 | 10 | 9.1 | 7.4 | – |
| Fracture (%) | 42.0 | 42 | 39 | 41.2 | – | 20 | – | 11.1 | – | |
| Joint hyperextensibility (%) | 50.0 | 50 | 8.5 | – | – | 32 | 100 | – | 22.2 | – |
| Gastrointestinal | ||||||||||
| Gastro-esophageal reflux disease (%) | – | – | – | – | – | – | – | – | – | 40 |
| Dysphagia (%) | – | – | – | – | – | – | – | – | – | 31 |
| Gastric ulceration (%) | – | – | – | – | – | – | – | – | – | 26 |
| Intestinal strictures (%) | – | – | – | – | – | – | – | – | – | 9 |
| Other features | ||||||||||
| Allergy (%) | 48.9 | – | 65 | 35.2 | 42.1 | ~ 25 | – | 18.2 | – | – |
| BCG-related complication (%) | 13.4 | 0 | – | 37.5 | 15.7 | – | 38.8 | – | 7.4 | – |
| Treatment | ||||||||||
| IVIG (%) | 53.0 | 53 | 30.6 | – | – | – | 25 | 72.7 | 13.0 | – |
| Antibiotic prophylaxis (%) | 90.0 | 90 | > 66 | – | – | – | 56 | 100 | 65.2 | – |
Key: “Overall” represents the sum or weighted average from the cohorts listed
*, molecular testing for STAT3 mutation not carried out in all patients; –, not documented; BCG, Bacille Calmette-Guérin