Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome

AL KHATIB S., Keles S., GARCIA-LIORET M., Koc-Aydiner E. K., Reisli I., Artac H., ...Daha Fazla

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.124, sa.2, ss.342-348, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 124 Sayı: 2
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1016/j.jaci.2009.05.004
  • Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.342-348
  • Anahtar Kelimeler: Hyper IgE syndrome, STAT3, T(H)17, IL-6, IL-21, ROR gamma t, UNPHOSPHORYLATED STAT3, CELL-DIFFERENTIATION, MUTATIONS, ROLES, PHOSPHORYLATION, DEFICIENCY, GENERATION, DEFENSE, BINDING, INNATE
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background: The hyper IgE syndrome (HIES) is characterized by abscesses, eczema, recurrent infections, skeletal and connective tissue abnormalities, elevated serum IgE, and diminished inflammatory responses. It exists as autosomal-dominant and autosomal-recessive forms that manifest common and distinguishing clinical features. A majority of those with autosomal-dominant HIES have heterozygous mutations in signal transducer and activator of transcription (STAT)-3 and impaired T(H)17 differentiation.