| Gene defect . | High IgE . | Eczema . | Staphylococcal disease . | Inflammation . | Extra-hematopoietic features . | IL-6 response . | References . |
|---|---|---|---|---|---|---|---|
| TYK2−/− (Japanese patient) | + | + | + | ND | − | − | Minegishi et al., 2006 |
| TYK2−/− (other patients) | − | − | − | + | − | + | Kreins et al., 2015 |
| TYK2P1104A/P1104A | − | − | − | + | − | + | Boisson-Dupuis et al., 2018 |
| STAT3+/− | + | + | + | − | + | − | Minegishi et al., 2007 |
| ZNF341−/− | + | + | + | +/− | +/− | − | Béziat et al., 2018; Frey-Jakobs et al., 2018 |
| IL6ST−/−a | + | + | + | − | + | − | Schwerd et al., 2017 |
| IL6R−/− | + | + | + | − | − | − | Spencer et al., 2019 |
| Anti–IL-6 autoantibodies | − | − | + | − | − | − | Puel et al., 2008 |
| Gene defect . | High IgE . | Eczema . | Staphylococcal disease . | Inflammation . | Extra-hematopoietic features . | IL-6 response . | References . |
|---|---|---|---|---|---|---|---|
| TYK2−/− (Japanese patient) | + | + | + | ND | − | − | Minegishi et al., 2006 |
| TYK2−/− (other patients) | − | − | − | + | − | + | Kreins et al., 2015 |
| TYK2P1104A/P1104A | − | − | − | + | − | + | Boisson-Dupuis et al., 2018 |
| STAT3+/− | + | + | + | − | + | − | Minegishi et al., 2007 |
| ZNF341−/− | + | + | + | +/− | +/− | − | Béziat et al., 2018; Frey-Jakobs et al., 2018 |
| IL6ST−/−a | + | + | + | − | + | − | Schwerd et al., 2017 |
| IL6R−/− | + | + | + | − | − | − | Spencer et al., 2019 |
| Anti–IL-6 autoantibodies | − | − | + | − | − | − | Puel et al., 2008 |
The IL6ST mutant allele is hypomorphic.