After processing your diagnosis, one of the first things to do is get informed about your treatment options. The foundations of CGD management are early diagnosis; a combination of antibiotics and antifungal prophylaxis and interferon gamma to reduce infections; management, of exposures; and consideration for hematopoietic stem cell transplantation.
With proper medical care and treatment, many people with CGD are able to live healthy and independent lives.
Locating a physician
Once you learn you or someone you love has CGD, you want to make certain the individual gets the best possible medical care and treatment. You may already have a primary care doctor but you may need another doctor who specializes in primary immunodeficiency diseases (PI). Choosing a doctor who is knowledgeable about your condition and has the experience to treat you will be one of the first decisions you’ll make towards management of your condition.
The Immune Deficiency Foundation maintains an online database—IDF Physician Finder—to help patients and families locate a specialist who treats people with primary immunodeficiency diseases such as CGD. You can search physicians by geographic location, last name, specialty and more. Click here, and log in or create an account to access the IDF Physician Finder. If you are having trouble locating a physician, or have feedback to help us improve this new feature, please contact IDF at 800-296-4433 or firstname.lastname@example.org.
All individuals with CGD should be on antibiotics for prevention (prophylaxis) of bacterial infection. The first line therapy is usually trimethoprim/sulfamethoxazole, also know as cotrimoxazole and septra. Since the infections that are important in CGD are in the environment and not carried in our bodies normally, the effect of antibiotics is to theoretically build a wall around the patient. Some antibiotics can also be given by injection if cultures indicate a need for such. Cotrimoxazole is active against most bacteria that may infect patients with CGD, but this medication does not suppress the helpful bacteria that normally live in the bowel. That is what makes cotrimoxazole a good choice for long-term CGD prophylaxis. Patients need to be aware of side effects from antibiotics and discuss them with their physician.
To reduce the frequency of fungal infections, many patients with CGD take itraconazole or other antifungal medications. Daily doses of the oral antifungal drug itraconazole can reduce fungal infections in CGD.
Maximum infection prophylaxis for CGD involves treatment with twice-daily oral doses of cotrimoxazole and twice-daily itraconazole, voriconazole or posaconazole, plus three times weekly injections of interferon gamma. With these prophylactic treatments, the average incidence of severe infections in CGD is less than once every four years. Individual factors will influence this frequency as well.
Patients need to be aware of antifungal side effects and discuss them with their physician. Some side effects could include photosensitivity from Voriconazole and sometimes elevated liver enzymes from any of the imidazoles. Liver function tests should be monitored.
To reduce the frequency and severity of serious infections associated with CGD, many patients receive interferon gamma, a biologically manufactured protein that is similar to a protein your body makes naturally. The exact way this drug works is not fully understood, but it is thought to work by affecting the function of many different types of cells including cells in the immune system and those that help form your bones.
Although not a cure for CGD, interferon gamma can reduce the frequency and severity of serious infections associated with CGD. Typically, it is taken by under the skin injections three times a week. The most common side effects are “flu-like” that may decrease in severity as treatment continues. If side effects develop, they may be minimized by bedtime administration, and acetaminophen taken before the injection may help.
In a large international multicenter randomized placebo-controlled trial, interferon gamma was effective at reducing the number of serious infections (those requiring hospitalizations) by 70% regardless of inheritance pattern, sex or use of chronic antibiotics.
Children with CGD should receive routine vaccinations as recommended by the American Academy of Pediatrics including live virus vaccines. Patients with CGD do not have any defect in immunity to viruses, so they are able to receive live virus vaccines without adverse effect. Many countries in Europe and Asia vaccinate children with the tuberculosis live bacterial vaccine, BCG, but this is not recommended practice in the U.S. Children with CGD should never receive the BCG live bacterial vaccine as it can result in a severe life-threatening systemic BCG infection. Salmonella vaccine should also to be avoided.
Stem Cell Therapy
Hematopoietic stem cell transplantation (HSCT), also known as bone marrow transplant, has been used in the treatment of chronic granulomatous disease (CGD). HSCT is performed using the patient’s own hematopoietic stem cells, which are harvested before transplantation and reinserted in the patient, allowing the transplanted stem cells to produce functional cells after engraftment that replaces the diseased cells. Stem cells may come from bone marrow, peripheral blood, or cord blood.
Most primary immunodeficiency diseases are caused by errors (mutations) in specific genes. Replacement of only the defective gene, called gene therapy, is currently available in clinical trials for X-linked CGD. In this therapy, some of the individual’s own hematopoietic stem cells are removed from the individual, and a healthy copy of the abnormal gene is added to the individual’s own stem cells. These corrected cells are then transfused back into the individual, similar to the procedure used for HSCT. As with HSCT and any treatment, the risks and benefits of the procedure must always be carefully weighed.