Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

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Woellner C., Gertz E. M., Schaeffer A. A., Lagos M., Perro M., Glocker E., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.125, no.2, pp.424-432, 2010 (SCI-Expanded) identifier identifier


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 (STAT-3) and severe reductions of T(H)17 cells.