Chronic granulomatous disease (CGD)
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Chronic granulomatous disease (CGD) is a hereditary condition characterized by a malfunctioning immune system. Individuals with this disorder experience a deficiency in their phagocytes, a type of white blood cell responsible for combating infections. As a result, these phagocytes, including neutrophils and macrophages, are ineffective at attacking and eliminating specific microorganisms. The presence of these microbes can lead to severe and potentially life–threatening infections.
Those afflicted by chronic granulomatous disease can experience infections in diverse areas such as the lungs, skin, lymph nodes, liver, gastrointestinal tract, and other regions. The condition elevates the susceptibility to the formation of abscesses, which are pockets of pus, within internal organs. Inflammation, indicated by swelling, can also manifest in various parts of the body. While most cases of CGD are diagnosed during childhood, some individuals might not receive a diagnosis until adulthood.
Symptoms
People who have chronic granulomatous disease get really bad bacterial or fungal infections every few years. They often get lung infections like pneumonia. People with CGD can get a serious kind of fungal pneumonia after being around dead leaves, mulch, or hay.
Symptoms of CGD typically manifest early in childhood and are exceptionally uncommon in adults. These symptoms can include:
- Elevated body temperature (fever).
- Discomfort in the chest while breathing in or out.
- Enlarged and tender lymph nodes.
- Persistent nasal discharge.
- Skin inflammation potentially accompanied by a rash, swelling, or redness.
- Inflammation and redness within the oral cavity.
- Gastrointestinal issues which might involve:
- Vomiting.
- Diarrhea.
- Abdominal discomfort.
- Blood–streaked stool.
- Painful accumulation of pus near the anal region.
If you suspect that you or your child may have developed fungal pneumonia due to exposure to decaying leaves, mulch, or hay, it is crucial to seek medical attention immediately. In case you or your child experience recurrent infections along with the symptoms mentioned earlier, it is advisable to consult your healthcare provider.
Causes
CGD is a primary immunodeficiency disease (PIDD), where the immune system malfunctions. This disorder, divided into X–linked and autosomal recessive types, stems from genetic mutations. In CGD, white blood cells, especially neutrophils, can’t effectively produce reactive oxygen species during a “respiratory burst,” which impairs their ability to kill certain bacteria and fungi. The faulty genes include CYBB for X–linked CGD, mainly affecting males, and CYBA, NCF1, NCF2, CYBC1, or NCF4 for autosomal recessive CGD.
Risk factors
If someone has a family history of CGD, they are more likely to inherit it. Usually, CGD is passed down through generations, but sometimes it can also happen due to random genetic changes.
Diagnosis
The diagnosis of CGD involves performing a physical exam, assessing one’s medical and family history, and conducting several tests.
Necessary tests may include:
- Blood test: Blood tests, including specialist tests known as dihydrorhodamine 123 (DHR) or nitroblue tetrazolium, which add chemicals to a blood sample and analyze white blood cells’ ability to produce reactive oxygen species may be required.
- Genetic testing: A healthcare provider examines a blood or tissue sample to find a defective gene that causes CGD. Genetic tests are used to confirm the existence of a specific genetic change that causes chronic granulomatous illness.
- Prenatal testing: If one of the children has already been diagnosed with CGD (chronic granulomatous disease), healthcare providers might perform prenatal testing to diagnose CGD during pregnancy.
Treatment
The treatment for CGD aims to prevent infections and effectively manage the condition. The following approaches are typically employed:
- Infection Prevention: Healthcare providers focus on proactively preventing bacterial and fungal infections. This can involve using a combination of trimethoprim and sulfamethoxazole or itraconazole. If infections occur, additional antibiotics or antifungal medications might be required.
- Interferon–Gamma: Periodic interferon–gamma injections might be administered to enhance the immune system’s ability to combat infections.
- Stem Cell Transplantation: Depending on factors such as prognosis, availability of a donor, and individual preferences, a stem cell transplant can potentially offer a cure for CGD. This option is considered in select cases.
