NIH Logo Chronic granulomatous disease (CGD) is known to be a genetic disorder wherein immune system cells are unable to function accurately. Experts the National Institutes of Health claim that survival rate of CGD patients is improved significantly even when very low levels of microbe-killing molecules are present. It was ascertained that production of microbe-killing molecules generated by an enzyme termed as NADPH oxidase, can anticipate a patient’s risk for severe CGD. The study findings can probably aid in providing more personalized treatment for patients suffering from CGD.

All CGD patients presumably have impaired superoxide production, while some provide little superoxide, others make none. It was discovered that the level of superoxide production relates to the type of mutation in the NADPH oxidase gene. Scientists note that more the superoxide a CGD patient can make, less severe the disease and greater the life expectancy. In order to examine the level of superoxide production, immune cells isolated from blood samples of 287 people with CGD were thoroughly evaluated. The results were then compared with superoxide production among healthy people.

NIAID Director Anthony S. Fauci, M.D., commented, “Advances in treatment of CGD have made it possible for people with this once-fatal disease of early childhood to survive into adulthood; however, the disease remains difficult to manage. Having a marker to help predict disease prognosis will enable physicians to recommend treatment options that are more tailored to the needs of individual patients.”

Having detected even trace amounts of superoxide, investigators grouped people with CGD based on the amount of superoxide made by the immune cells. Those producing highest levels of superoxide apparently had greatest survival rates. On the other hand, those registered with lowest levels of superoxide showed declined survival rates. It was affirmed that measuring superoxide production helps predict survival.

The study is published online in the New England Journal of Medicine.