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., ARTAÇ H., ...More

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


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.