NADPHoxidázishiánya

NADPH oxidase deficiency refers to a group of inherited disorders that impair the function of the NADPH oxidase enzyme complex. This complex is crucial for the immune system, particularly in phagocytic cells like neutrophils and macrophages. Its primary role is to generate reactive oxygen species (ROS), which are toxic molecules used by these cells to kill ingested bacteria and fungi.

When NADPH oxidase is deficient, these phagocytic cells are unable to produce sufficient ROS. This significantly weakens the body's ability to fight off certain microbial infections, leading to a condition known as chronic granulomatous disease (CGD). Individuals with CGD are prone to recurrent and severe infections, often caused by common bacteria and fungi that are usually harmless to healthy individuals. These infections can affect various organs, including the lungs, skin, lymph nodes, and liver, and can be life-threatening.

The severity of CGD depends on the specific subunit of the NADPH oxidase complex that is affected and the degree of enzyme dysfunction. Diagnosis is typically made through specialized tests that measure ROS production by phagocytic cells. Treatment focuses on preventing and managing infections with antibiotics, antifungals, and sometimes interferon-gamma. In severe cases, hematopoietic stem cell transplantation may be considered as a potentially curative option. Genetic counseling is important for affected families due to the inherited nature of these deficiencies.