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

Date
2009
Author
Baki, Ali
KÜTÜKÇÜLER, NECİL
Yilmaz, Mustafa
Ikinciogullari, Aydan
Yegin, Olcay
YUEKSEK, Mutlu
GENEL, Ferah
Kucukosmanoglu, Ercan
Bahceciler, Nerin N.
RAMBHATLA, Anupama
NICKERSON, Derek W.
MCGHEE, Sean
Barlan, Isil B.
CHATILA, Talal
AL KHATIB, Shadi
Keles, Sevgi
GARCIA-LIORET, Maria
Koc-Aydiner, Elif Kara
Reisli, Ismail
Artac, Hasibe
Camcioglu, Yildiz
Cokugras, Haluk
Somer, Ayper
Metadata
Show full item record
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.
URI
http://hdl.handle.net/20.500.12627/88924
https://doi.org/10.1016/j.jaci.2009.05.004
Collections