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

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Al Khatib S., Keles S., Garcia-Lioret M., Koc-Aydiner E. K., Reisli I., ARTAÇ H., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.124, no.2, pp.342-348, 2009 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 124 Issue: 2
  • Publication Date: 2009
  • Doi Number: 10.1016/j.jaci.2009.05.004
  • Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.342-348
  • Keywords: 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
  • Open Archive Collection: AVESIS Open Access Collection
  • Akdeniz University Affiliated: No

Abstract

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.