DOCK8 immunodeficiency syndrome is a rare immune disorder named after the mutated gene responsible for the disease. The disorder causes decreased numbers of immune cells, as well as poor ability of immune cells to move across dense tissues like the skin. These abnormalities resulting from this disease lead to recurrent viral infections of the skin and respiratory system. People with DOCK8 immunodeficiency syndrome also typically have allergies, asthma, and an increased risk for some types of cancer.
Initially, DOCK8 immunodeficiency syndrome was called autosomal recessive hyper IgE syndrome (AR-HIES) and considered a rare form of HIES, a primary immune deficiency disorder that NIAID also studies. However, NIAID researchers discovered in 2009 that many cases of AR-HIES are caused by a separate disease resulting from mutations in the DOCK8 gene. The disease consequently was renamed DOCK8 deficiency, and later, DOCK8 immunodeficiency syndrome.
In 2014, NIAID scientists discovered the DOCK8 protein is required for certain immune cells to move through dense tissues without fragmenting and dying. When 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 immunodeficiency syndrome. Read more about this discovery.
NIAID researchers continue to investigate the normal role of DOCK8 to identify better treatments for people with the disorder. Watch a video on DOCK8 immunodeficiency syndrome research at NIAID.
For detailed information about the cause of DOCK8 immunodeficiency syndrome and its inheritance pattern, signs, symptoms and treatment, as well as coping strategies for affected families, please read this fact sheet.