miércoles, 22 de julio de 2015

DOCK8 Deficiency

DOCK8 deficiency is a rare immune disorder named after the mutated gene responsible for the disease. It causes decreased numbers and defective function of immune cells, as well as poor ability of immune cells to move across dense tissues like the skin. The abnormalities resulting from DOCK8 defects lead to recurrent infections.

Watch a video on DOCK8 deficiency research at NIAID.
Credit: NIAID

Causes

DOCK8 deficiency is caused by mutations in the DOCK8 gene. Initially, the disease was called autosomal recessive hyper IgE syndrome (AR-HIES) and considered a rare form of HIES. In 2009 however, NIAID researchers discovered that many cases of AR-HIES are caused by a separate disease that results from mutations in the DOCK8 gene. As a result, the disease was renamed DOCK8 deficiency.

Signs and Symptoms

DOCK8 deficiency causes persistent skin infections from viruses that cause cold sores (herpes simplex virus), warts (human papillomavirus), molluscum, and shingles (varicella-zoster virus). People also have eczema, allergies, asthma, and a higher risk of developing cancer, such as squamous cell carcinoma and lymphoma.

People with DOCK8 deficiency do not typically have the joint, bone, and facial changes that are seen in AD-HIES or Job’s syndrome.

Diagnosis

Genetic testing for mutations in DOCK8 can confirm the diagnosis of DOCK8 deficiency in people suspected of having the disease.

Treatment and Research

Individuals with DOCK8 deficiency are given prolonged antibiotics and sometimes immunoglobulin replacement to prevent infections. Bone marrow transplantation is frequently recommended for DOCK8 deficiency.

In 2014, NIAID researchers discovered that DOCK8 is required to mobilize immune cells in the skin, likely accounting for the distinct skin infections seen in people with DOCK8 deficiency. Understanding the normal role of DOCK8 will enable researchers to identify better treatments for people with the disorder.