Chronic Granulomatous Disease

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Overview, Causes, & Risk Factors

Chronic granulomatous disease (CGD) is transmitted 50-60% of the time as a recessive sex-linked trait. This means that the condition is more likely to affect males than females because the defective gene is carried on the X chromosome. Since females have two X chromosomes, if one X chromosome has the defective gene, the second X chromosome will have a working copy of the gene to compensate. If a female inherits the defective gene from both parents, she can also be affected.

In this disease, the inability of phagocytic cells to kill certain bacteria and fungi leads to long term (chronic) and repeated (recurrent) infections. The condition is often discovered in the first years of life. Milder forms may appear in adolescence or even adulthood.

Impetigo, skin abscesses and furuncles, and perianal and rectal abscesses are common. Recurrent pneumonia is a significant problem and may be caused by bacteria not typically found in most pneumonias. Chronic swelling of the lymph nodes in the neck with abscess formation is common.

Risk factors include a family history of recurrent or chronic infections.

The incidence of chronic granulomatous disease is about 1 in a million.