Table I.
Characteristics of HIES patients
| HIES 1 | HIES 2 | HIES 3 | HIES 4 | HIES 5 | |
|---|---|---|---|---|---|
| Age | 18 | 18 | 15 | 7 | 42 |
| Sex | M | M | M | F | F |
| Infection | |||||
| Candidiasis | Yes | No | Yes | Yes | Yes |
| S. aureus pneumonia | Yes | Yes | No | No | Yes |
| S. aureus abscesses | Yes | Yes | Yes | Yes | Yes |
| Other serious infection | No | No | No | No | No |
| Parenchymal lung damage | Yes | Yes | No | No | Yes |
| Characteristic face | Yes | Yes | Yes | Yes | Yes |
| Retained primary teeth | Yes | Yes | Yes | — | Yes |
| Fractures | Yes | Yes | Yes | No | No |
| Phenotype score (21) | 71 | 50 | 54 | 26 | 63 |
| IgE (kIU/L) | 18,314 | 37,620 | 2,545 | 8,075 | 7,491 |
| Genotype | V432M | R382Q | R382Q | H437P | Q644P |
| Affected STAT3 domain | DNABD | DNABD | DNABD | DNABD | SH2 |
DNABD, DNA binding domain; SH2, src homology 2 domain.