Novel STAT3 mutations reduced TH17 cell numbers and variably defective STAT3 phosphorylation in Hyper-IgE syndrome

摘要

BackgroundHyper-IgE Syndrome (HIES) is a rare, autosomal dominant (AD) immunodeficiency characterized by eczema, Staphylococcus aureus skin abscesses, pneumonia with pneumatocele formation, Candida infections, and skeletal/connective tissue abnormalities. Recently it was shown that heterozygous STAT3 mutations cause AD-HIES.