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

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

The Journal of allergy and clinical immunology, cilt.125, sa.2, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 125 Sayı: 2
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1016/j.jaci.2009.10.059
  • Dergi Adı: The Journal of allergy and clinical immunology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Hyper-IgE syndrome, HIES, Job syndrome, T(H)17 cells, STAT3 mutations, diagnostic guidelines, HOST-DEFENSE, CELLS
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.