Ontology highlight
ABSTRACT:
SUBMITTER: Janssen E
PROVIDER: S-EPMC5096816 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Janssen Erin E Tohme Mira M Hedayat Mona M Leick Marion M Kumari Sudha S Ramesh Narayanaswamy N Massaad Michel J MJ Ullas Sumana S Azcutia Veronica V Goodnow Christopher C CC Randall Katrina L KL Qiao Qi Q Wu Hao H Al-Herz Waleed W Cox Dianne D Hartwig John J Irvine Darrell J DJ Luscinskas Francis W FW Geha Raif S RS
The Journal of clinical investigation 20160906 10
Wiskott-Aldrich syndrome (WAS) is associated with mutations in the WAS protein (WASp), which plays a critical role in the initiation of T cell receptor-driven (TCR-driven) actin polymerization. The clinical phenotype of WAS includes susceptibility to infection, allergy, autoimmunity, and malignancy and overlaps with the symptoms of dedicator of cytokinesis 8 (DOCK8) deficiency, suggesting that the 2 syndromes share common pathogenic mechanisms. Here, we demonstrated that the WASp-interacting pro ...[more]