DOCK8 deficiency is a rare immune disorder named after the mutated gene responsible for the disease. NIAID researchers discovered the cause of DOCK8 deficiency in 2009. People with this syndrome have lower-than-normal numbers of immune cells, which have a diminished capacity to move through dense tissues like the skin. These abnormalities lead to recurrent viral infections of the skin and respiratory system. People with DOCK8 deficiency also typically have allergies, asthma, and an increased risk for some types of cancer.
DOCK8 deficiency is associated with very high levels of an antibody called immunoglobulin E, or IgE. The syndrome formerly was known as autosomal recessive hyper-IgE syndrome, or AR-HIES. DOCK8 deficiency is one of many hyper-IgE syndromes.
Discovery of DOCK8 Protein Function
In 2014, NIAID scientists discovered that the DOCK8 protein is required for certain immune cells to move through dense tissues without fragmenting and dying. When the DOCK8 protein is mutated, immune cells cannot reach and clear viral infections in the skin, likely accounting for the distinct skin infections seen in people with DOCK8 deficiency.
DOCK8 Helps Mobilize Immune Cells in the Skin
NIAID scientists have discovered a novel role for DOCK8, an immune cell protein that, when missing or mutated, results in a disorder called DOCK8 deficiency. For unclear reasons, DOCK8-deficient patients experience severe and persistent skin infections. In the latest study, researchers show that DOCK8-deficient immune cells cannot move easily in dense tissues like the skin, causing the cells to fragment and die. The study appears in the Nov. 24, 2014, online issue of The Journal of Experimental Medicine.
Treating DOCK8 Deficiency Research
NIAID researchers continue to investigate the normal role of DOCK8 to identify better treatments for people with the disorder. Watch a video on DOCK8 deficiency research at NIAID.
DOCK8 Fact Sheets
DOCK8 Immunodeficiency Syndrome
For detailed information about the cause of DOCK8 deficiency and its inheritance pattern, signs, symptoms and treatment, as well as coping strategies for affected families, please read the DOCK8 Immunodeficiency Syndrome.
DOC8 Deficiency: A Guide for Adolescents
To learn more about managing DOCK8 deficiency in adolescents, please read DOCK8 Deficiency: A Guide for Adolescents.