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Chronic Granulomatous Disease


Overview :

CGD is an X-linked genetic disease, meaning the defective gene is carried on the X chromosome (one of the sex chromosomes). Females have two copies of the X chromosome, whereas males have one X and one Y. CGD also is a recessive defect meaning that both copies of the chromosome must have the defect before it can be expressed. Females who have one X chromosome without the defect do not get this disease. Males, since they only have one X chromosome, get the disease if the defect is present. Thus, CGD affects mostly males.

CGD is an immunodeficiency disorder. Patients with immunodeficiency disorders suffer frequent infections. This happens because part of their immune system isn't working properly and the infectious microorganisms are not killed as rapidly as is normal. In CGD there is a defect in the ability of the white blood cells to kill bacteria and fungi. The white blood cells affected are phagocytic cells. They are part of the non-specific immune system and move via the blood to all parts of the body where they ingest and destroy microbes. Phagocytic cells are the first line of defense against microorganisms. In this disease, the decreased ability to kill microbes that they have ingested leads to a failure to effectively combat infectious diseases. Patients with CGD are subject to certain types of recurring infection, especially those of the skin, lungs, mouth, nose, intestines, and lymph nodes. With the exception of the lymph nodes, all of these areas are considered external tissues that come into contact with microorganisms from the environment. The lymph system drains all areas of the body to eliminate destroyed microorganisms and to assist the immune system in attacking microorganisms. Infections occur in the lymph nodes as a consequence of the normal draining function.




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