Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation
Articles > Article · 2016
Authors: Sevgi Keles, Louis Marie Charbonnier, Venkataraman Kabaleeswaran, Ismail Reisli, Ferah Genel, Nesrin Gulez, Waleed Al-Herz, Narayanaswamy Ramesh, Antonio Perez-Atayde, Neslihan KARACA, Necil KÜTÜKÇÜLER, Hao Wu, Raif S. Geha, Talal A. Chatila
Journal of Allergy and Clinical Immunology, Journal Indexed in SCI Expanded, International, WoS, 2016, vol 138, pp 1384-1394.e2
DOI: 10.1016/j.jaci.2016.04.023
Summary
Background: The autosomal recessive hyper-IgE syndrome (HIES) caused by dedicator of cytokinesis 8 (DOCK8) deficiency shares clinical features with autosomal dominant HIES because of signal transducer and activator of transcription 3 (STAT3) mutations, including recurrent infections and mucocutaneous candidiasis, which are suggestive of T(H)17 cell dysfunction. The mechanisms underlying this phenotypic overlap are unclear.