Background Increasing evidence links genetic defects affecting actin-regulatory proteins to
diseases with severe autoimmunity and autoinflammation, yet the underlying molecular …

Dedicator of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation.
This is highlighted by the DOCK2 and DOCK8 deficiencies leading to actinopathies and …

Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency
that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending …

Inborn errors of immunity cause monogenic immune dysregulatory conditions such as
severe and recurrent pathogen infection, inflammation, allergy, and malignancy. Somatic …

Biallelic inactivating mutations in DOCK8 cause a combined immunodeficiency
characterized by severe pathogen infections, eczema, allergies, malignancy, and impaired …

Purpose The dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive-
combined immunodeficiency whose clinical spectra include recurrent infections …

DOCK2 is a guanine-nucleotide-exchange factor for Rac proteins. Activated Rac serves
various cellular functions including the reorganization of the actin cytoskeleton in …

Dedicator of cytokinesis 8 (DOCK8) deficiency is an innate error of adaptive immunity
characterized by recurrent infections with viruses, bacteria, and fungi, typically high serum …

DOCK8 deficiency is a newly described primary immune deficiency resulting in profound
susceptibility to cutaneous viral infections, elevated IgE levels, and eosinophilia, but lacking …

DOCK8 deficiency affects various cell subsets belonging to both the innate and adaptive
immune systems. Clinical diagnosis is challenging, as many cases present with severe …