In a story from Healio, Dr. Niraj C. Patel, who is an associate professor of pediatric infectious disease and immunology at Levine Children’s Hospital, Atrium Health in Charlotte, NC, is emphasizing the need for pediatricians to be aware of the characteristics of chronic granulomatous disease (CGD), a rare form of primary immunodeficiency. In a Q&A session, Dr. Patel elaborates on the important signs of this rare illness and why doctors should take the time to learn more.
About Chronic Granulomatous Disease
Chronic granulomatous disease (CGD), which is also called Bridges-Good syndrome, describes a diverse group of hereditary genetic diseases. They are characterized by the appearance of granulomata (small clusters of macrophages, a type of immune system cell) in many organs throughout the body. This is the result of immune cells not being able to form the reactive compounds used to destroy pathogens. It is caused by mutations affecting the NOX2 or CYBB gene, which is found on the X chromosome. Therefore, most cases of chronic granulomatous disease are X-linked. Infections are the most common symptom and appear due to the compromised state of the immune system. Infections may include skin infections, pneumonia, bacterial or fungal blood infections, septic arthritis, and osteomyelitis. The agents that cause infection are almost never dangerous in healthy people. Treatment include antibiotics, interferon, and stem cell transplant. A stem cell transplant can cure the disease but comes with serious risks. To learn more about chronic granulomatous disease, click here.
Of the rare diseases affecting children in the United States, why focus on CGD?
Dr. Patel highlights the unfortunate fact that many patients with this condition live for years without a diagnosis, which is an unpleasant reality for many different rare diseases. However, he also emphasizes that prompt and active treatment for the disease can make a major difference for patients; the sooner treatment can begin, the greater their outcomes. Some patients can even be cured, but they must be treated aggressively and early in the course of the illness.
What do pediatricians need to know about CGD?
Infections in kids with the illness present similarly to those in healthy kids, but unusual infections should be a warning sign of CGD or other immunodeficiency disorders. These infections can include liver abscesses. Delays in the healing of wounds are another troublesome sign.
What is the relationship between CGD and bacterial and fungal infections?
Dr. Patel says that kids with the disease more easily experience these infections because their phagocytes (cells which consume microorganisms) fail to release certain substances that would normally kill bacteria or fungal cells. This is because of a deficiency of a certain protein.
What treatment options are currently available for children with CGD?
Treatment with antibiotics and antifungal medications, often taken daily, are the most typical treatment for CGD. They can greatly reduce the risk of infections. While a stem cell transplant can potentially cure a patient, these are not as widely available and carry major risks. Gene therapy could be a highly effective treatment for CGD in the future.
Where should future CGD research focus?
According to Dr. Patel, a major focus should be the development of strategies to speed up diagnosis. Another area of research should focus on interferon gamma injections; prior studies have suggested that this treatment could help treat infections that commonly appear in the disease.
Is there anything else that is important to know about CGD and current issues with its diagnosis and treatment?
Infections remain the biggest risk for patients. Early diagnosis makes a major impact and preventative use of antibiotics, antifungals, and possibly interferon gamma are the best currently available strategies that can help patients avoid serious infections.
