About DOCK8

Background

In 2009, National Institute of Allergy and Infectious Disease (NIAID) researchers at the National Institute's of Health (NIH) identified DOCK8 deficiency, an immune disease that causes severe health problems, including persistent skin infections from viruses that cause cold sores (herpes simplex virus), warts (human papillomavirus), and shingles (varicella-zoster virus). Patients also have severe eczema, allergies, asthma, and critically, a higher risk of developing cancer. At the time, researchers did not understand how DOCK8 affected the immune system but knew it was severe, as lifespan was severely impacted.

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NIH began researching DOCK8 and how to prevent, treat, and cure the illness.

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Treatments

Once a diagnosis is made, treatment for DOCK8 immunodeficiency syndrome is based on a person’s clinical condition and may include medications and other strategies for managing specific infections, allergies, and asthma. Doctors may recommend the prophylactic, or preventive, use of antimicrobial drugs to prevent infections. Doctors also may consider using immunoglobulin replacement therapy if immunoglobulin levels are low. In some patients, a drug called interferon alpha has been used to control serious viral infections, such as widespread warts or herpes.

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So far there is only one known cure: a bone marrow transplant.

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Bone Marrow Transplants

A bone marrow transplant is a medical treatment that replaces your bone marrow with healthy cells. The replacement cells can either come from your own body or from a donor.

 

A bone marrow transplant is also called a stem cell transplant or, more specifically, a hematopoietic stem cell transplant. Transplantation can be used to treat certain types of cancer, such as leukemia, myeloma, and lymphoma, and other blood and immune system diseases that affect the bone marrow. Stem cell transplants were first attempted in DOCK8 patients in 2010. At first, transplants were very experimental and patient outcomes often unknown. Now, hundreds of transplants have been successfully performed at hospitals across the country. However, some hospitals are much more comfortable performing the procedure than others.

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