Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.


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

The Journal of allergy and clinical immunology, vol.125, no.2, 2010 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 125 Issue: 2
  • Publication Date: 2010
  • Doi Number: 10.1016/j.jaci.2009.10.059
  • Journal Name: The Journal of allergy and clinical immunology
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Keywords: Hyper-IgE syndrome, HIES, Job syndrome, T(H)17 cells, STAT3 mutations, diagnostic guidelines, HOST-DEFENSE, CELLS

Abstract

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.