/combined immunodeficiency due to DOCK8 deficiency

combined immunodeficiency due to DOCK8 deficiency

Rare Disease

MONDO:0009478

Also Known As

Cid due to DOCK8 deficiencyDOCK8 immunodeficiency syndromecombined immunodeficiency due to DOCK8 deficiencycombined immunodeficiency due to dedicator of cytokinesis 8 protein deficiencydedicator of cytokinesis 8 deficiencyAR hyperimmunoglobulin E syndromeAR-HIESDOCK8 deficiencyHIES autosomal recessiveHIES, autosomal recessiveautosomal recessive hyper IgE syndromehyper Ig E syndrome, autosomal recessivehyper-IgE recurrent infection syndrome, autosomal recessivehyper-IgE syndrome, autosomal recessivehyperimmunoglobulin E recurrent infection syndrome, autosomal recessive

Definition

Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).