Chronic granulomatous disease (CGD)

CGD is usually suspected when a child has serious or repeated infections, especially with germs such as Burkholderia, Serratia, Nocardia or Aspergillus. Finding which germ caused an infection is an important clue, because CGD infections come from a fairly short list of germs. Bowel inflammation (colitis) or a lump of inflamed tissue in the bowel or bladder can also be the first sign. Most people are diagnosed before age 5, but some are not found until late adulthood. Immunologists or infectious disease specialists are often better equipped to make the diagnosis.

The first test checks whether neutrophils can make their germ-killing burst, most often the DHR test. Its pattern can also hint at the form: cells that make almost none, cells that make a little (milder forms), or a mix of working and non-working cells, as seen in women who carry X-linked CGD. The older NBT slide test can miss mild cases and carriers. Routine DHR testing does not pick up one rare form, caused by the NCF4 gene.

A genetic test, usually a panel of the known CGD genes or exome sequencing, confirms the diagnosis and the form. CGD is not on the U.S. recommended newborn screening panel, so it is usually found through symptoms or family testing. Once the family's gene change is known, relatives who could be affected can be tested early so preventive medicines can start. Testing during pregnancy, or testing of embryos before pregnancy (preimplantation testing), is also possible.

Everyday care aims to prevent infection. People with CGD usually take a daily antibiotic, most often trimethoprim-sulfamethoxazole, and many also take a daily antifungal such as itraconazole. In a small study that compared itraconazole with a placebo (a dummy pill), fungal infections were less common while people took itraconazole. Many people also get interferon gamma-1b (Actimmune), a shot given three times a week that the FDA approved to reduce how often serious CGD infections happen and how severe they are.

Infections are treated early and aggressively, sometimes in the hospital with medicine given through a vein. Bowel and other inflammation may need steroids, and people taking them are watched closely for side effects. The BCG tuberculosis vaccine can cause a severe infection in CGD, so it is not given. People with CGD are usually told to stay away from mulch, compost, hay, dead leaves and similar material, because it is full of molds.

A donor stem cell transplant replaces the blood-forming cells, so the new neutrophils come from the donor and can kill germs. Experts still debate who should have one. Results are better in younger people and with well-matched donors, and European transplant guidelines advise considering it as early as possible, before organ damage. A transplant may not undo lung, bowel or other damage that is already there. Gene therapy and gene editing using a person’s own corrected cells are being tested in early clinical trials. As of September 2026, trials were under way for X-linked CGD and for a recessive form caused by the NCF1 gene. None of these is an approved treatment.

When a transplant from a donor is planned, the team usually tests brothers and sisters first. Each full sibling has about a one in four chance of being a full match.

Most patients do not have a matched relative. In the words of NMDP, the U.S. registry, “75% of patients don’t have a fully matched donor in their own family.” The team then searches registries of volunteer donors around the world and banks of donated cord blood. In some transplants, a half-matched parent, child or sibling can also be the donor.

Matching depends on inherited tissue markers called HLA, so a patient is most likely to match someone who shares their ancestry. Every person who joins makes the search a little more likely to succeed, especially for patients from groups that are underrepresented on registries.

Outlook with CGD has improved a great deal, mainly because of daily antibiotic and antifungal medicines. In published studies from several countries, about 9 in 10 children are alive at age 10. With treatment, most people with CGD live into mid- to late adulthood.

The biggest driver is how much germ-killing chemical a person's cells can still make. People whose cells make even a little tend to have milder illness and live longer. This is common in the NCF1 (p47phox) form and in some X-linked forms. People with X-linked CGD whose cells make none tend to have more severe illness. Fungal infections remain the leading cause of death, and liver damage after abscesses adds to the risk. Bowel inflammation can be hard to live with, but it has not been shown to shorten life.

Families and care teams weigh the form of CGD, past infections, organ health and donor options when they talk about a transplant, the only known cure.