Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome
Makaleler > Tam Makale · 2009
Yazarlar: Shadi AL KHATIB, Sevgi Keles, Maria GARCIA-LIORET, Elif Kara Koc-Aydiner, Ismail Reisli, Hasibe Artac, Yildiz Camcioglu, Haluk Cokugras, Ayper SOMER, Necil KÜTÜKÇÜLER, Mustafa Yilmaz, Aydan Ikinciogullari, Olcay Yegin, Mutlu YUEKSEK, Ferah GENEL, Ercan Kucukosmanoglu, Ali Baki, Nerin N. Bahceciler, Anupama RAMBHATLA, Derek W. NICKERSON, Sean MCGHEE, Isil B. Barlan, Talal CHATILA
Journal of Allergy and Clinical Immunology, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2009, cilt 124, ss 342-348.e5
DOI: 10.1016/j.jaci.2009.05.004
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.