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

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.125, sa.2, ss.424-432, 2010 (SCI İndekslerine Giren Dergi) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 125 Konu: 2
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1016/j.jaci.2009.10.059
  • Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Sayfa Sayıları: ss.424-432

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.