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Chronic granulomatous disease - Overview

Alternative Names

CGD; Fatal granulomatosis of childhood; Chronic granulomatous disease of childhood; Progressive septic granulomatosis

Definition of Chronic granulomatous disease:

Chronic granulomatous disease is an inherited disorder in which immune system cells called phagocytes do not function properly. This leads to ongoing infection.

Causes, incidence, and risk factors:

In chronic granulomatous disease (CGD), phagocytic cells are unable to kill certain bacteria and fungi. This leads to long term (chronic) and repeated (recurrent) infections. The condition is often discovered in very early childhood. Milder forms may appear during the teen years or even in adulthood.

Impetigo, skin abscesses and furuncles, and perianal and rectal abscesses are common in people with this disorder. Pneumonia that keeps coming back, and is caused by bacteria not typical of most pneumonias, is a significant problem. Chronic swelling of the lymph nodes in the neck, with the formation of abscesses, is common.

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

About half of CGD cases are transmitted as a recessive, sex-linked trait. This means that boys are more likely to inherit the disorder than are girls. Boys have an X and a Y chromosome. Girls have two X chromosomes. The defective gene is carried on the X chromosome. So, if a girl has one X chromosome with the defective gene, the other X chromosome may have a working gene to make up for it. A girl has to inherit the defective gene from both parents in order to have the disease.

About 1 in a million people have CGD.

Antibodies

Reviewed last on: 9/28/2008
David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Jatin M. Vyas, MD, PhD, Instructor in Medicine, Harvard Medical School, Assistant in Medicine, Division of Infectious Disease, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Boxer LA. Disorders of phagocyte function. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 129.

Glogauer M. Disorders of phagocyte function. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 175.

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