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

Background Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency
caused by autosomal recessive loss-of-function mutations in DOCK8. This disorder is …

The discovery of the molecular basis of this disease is expected to facilitate diagnosis and
definitive treatment with hematopoietic cell transplantation. Further research is needed to …

Background Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a
combined immunodeficiency with eczema, recurrent bacterial and viral infections, and …

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

We describe seven Turkish children with DOCK8 deficiency who have not been previously
reported. Three patients presented with typical features of recurrent or severe cutaneous …

Background Autosomal recessive loss-of-function mutations in dedicator of cytokinesis 8
(DOCK8) cause a combined immunodeficiency characterized by atopy, recurrent infections …

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

Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined
immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and …

The discovery that loss‐of‐function mutations in the gene DOCK8 are responsible for most
forms of autosomal recessive hyper‐IgE syndrome and some forms of combined …