Functional and structural analysis of cytokine selective IL6ST defects that cause recessive hyper-IgE syndrome

Capsule summary: We investigate how recessive variants in IL6ST cause selective cytokine signaling defects and cause autosomal recessive hyper-IgE syndrome with immunodeficiency and skeletal abnormalities.

Source: Journal of Allergy and Clinical Immunology - March 22, 2021 Category: Allergy & Immunology Authors: Yin-Huai Chen, Diane B. Zastrow, Riley D. Metcalfe, Lisa Gartner, Freia Krause, Craig J. Morton, Shruti Marwaha, Laure Fresard, Yong Huang, Chunli Zhao, Colleen McCormack, David Bick, Elizabeth A. Worthey, Christine M. Eng, Jessica Gold, Undiagnosed Disea Source Type: research