Table 1.

IEIs and HIES-like phenotypes

Genetic defectSTAT3ZNF341IL6STIL6ROSMR
Inheritance AD AR AR partial AD AR AR 
Core syndrome HIES HIES HIES HIES HIES-like Severe atopy/HIES-like 
Skin and pulmonary infections + + + + + +/− 
Atopic dermatitis/eczema + + + + + + 
Extrahematopoietic/developmental abnormalities + + + + − +/− 
Hyper-IgE + + + + + + 
Eosinophilia + + + + + + 
Low levels of memory B cells + + + + + +/− 
Low levels of Th17 cells + + +/− +/− +/− − 
Impaired acute-phase/inflammatory responses + +/− + +/− + ND/not reported 
Impaired IL-6 signaling + + + + + − 
Impaired IL-11 signaling ND/expected ND/expected + + ND/not expected − 
Impaired LIF signaling ND/expected ND/expected +/− +/− ND/not expected − 
Impaired OSM signaling ND/expected ND/expected +/− +/− ND/not expected + 
Predominant compartment Hematopoietic/stromal/epithelial Hematopoietic/stromal/epithelial Hematopoietic/stromal/epithelial Hematopoietic/stromal/epithelial Hematopoietic/stromal/epithelial Stromal/epithelial 
Key references (4) (9, 10) (6, 7, 8) (11) (15, 16) (17, 18) 

AD, autosomal dominant; AR, autosomal recessive; HIES, hyper IgE syndrome; IEI, inborn error of immunity; ND, not determined.

[ViewLarge]
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal