Ontology highlight
ABSTRACT:
SUBMITTER: Biggs CM
PROVIDER: S-EPMC5555255 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Clinical immunology (Orlando, Fla.) 20170615
Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending beyond recurrent infections to include atopy, autoimmunity and cancer. It is caused by loss of function mutations in DOCK8, encoding a guanine nucleotide exchange factor highly expressed in lymphocytes that regulates the actin cytoskeleton. Additional roles of DOCK8 have also emerged, including regulating MyD88-dependent Toll-li ...[more]