Chronic granulomatous disease

Chronic granulomatous disease (CGD) is an inherited disorder characterized by a faulty immune system leading to recurrent and life-threatening bacterial and fungal infections. The most common area of infection is the lungs, but infections also occur in the lymph nodes, liver, bone and skin. CGD can also cause inflammation in different areas of the body, usually in the digestive tract, as well as the stomach, colon, rectum, mouth and throat. The inflammation can obstruct the digestive tract which can keep food from being digested well, so children affected with CGD often grow at a slower rate. In most individuals affected with CGD, symptoms begin to appear before they are five years old, though for some individuals symptoms do not appear until adulthood. Selective use of antibiotics and antifungals has helped to decrease the number of infections over the course of a lifetime and significantly improved life expectancy. Males affected with X-linked CGD, however, tend to have an earlier onset of symptoms, more severe infections, and a slightly shorter life expectancy. Hematopoietic stem cell transplantation can cure CGD, but this treatment is associated with high risks and complications. X-linked CGD is caused by pathogenic variants in the CYBB gene.

CGD caused by pathogenic variants in the CYBB gene is inherited in an X-linked manner. This type of inheritance requires the presence of one copy of a pathogenic variant in the gene located on the X-chromosome for males to be affected. When the pathogenic variant is inherited from the unaffected carrier mother, the male child will have the genetic disease. There is a 50% chance that a baby will inherited the pathogenic variant from the mother; females who inherited the pathogenic variant will be carriers, males who inherited the pathogenic variant will be affected.

There are generally no signs or symptoms associated with being a carrier for ALD. However, the risk to have a child affected with ALD is increased for female carriers.

CGD is estimated to occur in 1 in 200,000 newborns in the United States.

The following websites may be informative: Genetic Home Reference: Chronic granulomatous disease (http://ghr.nlm.nih.gov/)($) Genetic Alliance: Chronic granulomatous disease (http://diseaseinforsearch.org/)

Gene Reviews: Chronic granulomatous disease (http://www.ncbi.nlm.nih.gov/books/NBK99496/) OMIM: [306400: CHRONIC GRANULOMATOUS DISEASE, X-LINKED] (http://www.ncbi.nlm.nih.gov/omim)

• Full gene sequencing