Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
C Woellner, EM Gertz, AA Schäffer, M Lagos… - Journal of Allergy and …, 2010 - Elsevier
BACKGROUND: The hyper-IgE syndrome (HIES) is a primary immunodeficiency
characterized by infections of the lung and skin, elevated serum IgE, and involvement of the
soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-
negative mutations in the signal transducer and activator of transcription 3 (STAT3) and
severe reductions of TH17 cells. OBJECTIVE: To determine whether there is a correlation
between the genotype and the phenotype of patients with HIES and to establish diagnostic …
characterized by infections of the lung and skin, elevated serum IgE, and involvement of the
soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-
negative mutations in the signal transducer and activator of transcription 3 (STAT3) and
severe reductions of TH17 cells. OBJECTIVE: To determine whether there is a correlation
between the genotype and the phenotype of patients with HIES and to establish diagnostic …
