Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE …
ED Renner, S Rylaarsdam, S Aňover-Sombke… - Journal of Allergy and …, 2008 - Elsevier
BACKGROUND: Hyper-IgE syndrome (HIES) is a rare, autosomal-dominant
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 signal transducer and activator of
transcription 3 (STAT3) mutations cause autosomal-dominant HIES. OBJECTIVE: To
determine the spectrum and functional consequences of heterozygous STAT3 mutations in a …
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 signal transducer and activator of
transcription 3 (STAT3) mutations cause autosomal-dominant HIES. OBJECTIVE: To
determine the spectrum and functional consequences of heterozygous STAT3 mutations in a …