What is DOCK8 Deficiency?
DOCK8 immunodeficiency is a rare genetic disorder that causes eosinophilia, which is an elevated white blood cell count. This effects 2 other types of white blood cells, B lymphocytes and T lymphocytes. DOCK8 is a gene coding protein that enables immune responses and the immunodeficiency is caused by a mutation or disorder. This predisposes the person to cancers, respiratory illnesses, allergic reactions, as well as bacterial and viral infections.
Immunology and DOCK8 Deficiency
To understand the deficiency one must understand how immunology works. There are many mechanisms and pathways involved but for this article I will limit it to the basics. The B lymphocytes or B cells have 2 receptor sites to bind invading antigens called IgM and IgD. The B cell then presents a protein called CD40 to a T lymphocyte or T cell. The T cell binds to the CD40 and stimulates the B cell to copy itself and to produce antibodies. The end result is killing off the invading microbe and tagging it so it can be remembered in the event of future infection. This is tantamount to receiving a vaccine which contains an attenuated virus or bacteria. An example of this is with Covid-19, where the current version of the virus is weakened and administered to the body to build immunity.
In regard to DOCK8 the gene is found on chromosome 9 which has over 130 pairs of nucleic acids. A person would need 2 copies of this abnormality which is one from each parent in order to develop the ailment. The deficiency of that protein hampers B cell signaling as well as B cell memory. For the T cell signaling it goes unregulated increasing inflammation by producing excessive amounts of cytokines. The DOCK8 deficiency not only leaves a person vulnerable to viral and bacterial attack but it also increases their chances for developing organ failure and different types of cancers.
Symptoms of the Disease
Some of the illnesses associated with DOCK8 are allergies which can include serious skin rashes like eczema. The eczema can be so severe that it can cause permanent disfigurement.
Fungal infections are common, also viral infections like Herpes and HPV can prominently flare and be untreatable. Recurrent HPV infections can result in the patient developing cancer.
Pulmonary issues can arise such as asthma and pneumonia. If a person has recurrent pneumonias this can result in Bronchiectasis where the lungs are permanently damaged. Not only will the person have fatigue and struggle to do normal everyday tasks, but they would be more susceptible to other infections on top of already having DOCK8.
People with this condition are also predisposed to an array of skin cancers and lymphomas as the DOCK8 cannot properly monitor and respond to cancer cells.
Children with the disease can develop neuroblastomas. Both adults and children can develop neurological disorders that mimic a stroke and cause paralysis of the face. As a result the patient would be predisposed to a decreased blood flow to the brain.
Living With the Disease
As with most diseases those effected will have some good days and some bad days. This is a very serious, debilitating, and life changing illness. The key factor that makes this disease so invasive is that the immune system does not work properly. Instead of developing immunity towards an illness, the patient continues to get sick and have recurrent infections. As a result the patient develops a high probability of going into organ failure. What is worse is that the rarity of the disease can limit the treatment options. The majority of people suffering from this ailment die by the age of 20. That being said there is treatment and some people have even been cured.
Treatment Plans and Options
Depending on the severity of the illness most doctors work with patients to manage the ailment. Hematopoietic stem cell transplantation more commonly known as a bone marrow transplant is currently considered the only option for a cure. A donor match would need to be found in order for the patient to undergo the procedure. Upon successful transplantation the patient would be closely monitored. Have a regiment of medications and essentially isolate anywhere from 6 months to a year to fully recover.
Despite this being a very dangerous disease it can be managed for a time with medications. A bone marrow transplant can be a cure but that all depends on the severity of the illness for that particular person. Hopefully as medicine advances there will be a simpler cure or that this disease can be eliminated all together.
DOCK8 B Cell regulation from The National Library of Medicine
DOCK8 T Cell regulation from The National Library of Medicine
Understanding DOCK8 from The National Institute of Allergy and Infectious Disease
Allergic reactions due to DOCK8 deficiency from Advances in Dermatology and Venereology
Symptoms of DOCK8 from The U.S. National Library of Medicine
Treatment for DOCK8 from Frontiers In Pediatrics
Abbas, K. A., & Lichtman H. A. (2006).Basic Immunology: Functions and Disorders of the Immune System. Saunders Elsevier
This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.
© 2020 E Randall
E Randall (author) from Florida on December 31, 2020:
Thank you Sir, I appreciate it.
Umesh Chandra Bhatt from Kharghar, Navi Mumbai, India on December 31, 2020:
Very informative. Thanks.