DOCK8 deficiency: insights into pathophysiology, clinical features and management
Abstract 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-like receptor signaling and …
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-like receptor signaling and …
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