Article
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
The Journal of allergy and clinical immunology - 1 Jul 2008
Renner Ellen D, Rylaarsdam Stacey, Anover-Sombke Stephanie, Rack Anita L, Reichenbach Janine, Carey John C, Zhu Qili, Jansson Annette F, Barboza Julia, Schimke Lena F, Leppert Mark F, Getz Melissa M, Seger Reinhard A, Hill Harry R, Belohradsky Bernd H, Torgerson Troy R, Ochs Hans D
Abstract excerpt
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...
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