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Table 1.
Impaired IL-6 immunity and HIES
Gene defectHigh IgEEczemaStaphylococcal diseaseInflammationExtra-hematopoietic featuresIL-6 responseReferences
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 defectHigh IgEEczemaStaphylococcal diseaseInflammationExtra-hematopoietic featuresIL-6 responseReferences
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  
a

The IL6ST mutant allele is hypomorphic.

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