8-year-old girl diagnosed with chronic granulomatous disease

An 8-year-old girl has been experiencing fevers and chest pain for the past month. She initially had daily fevers and right-sided chest pain but felt better after a course of antibiotics. However, the fever returned and continued almost every day. During her doctor visits, her physical exams appeared normal, and tests showed nothing unusual at first. But after a chest CT scan, doctors found signs of pneumonia. After being hospitalized and treated, her symptoms persisted, leading to further tests. She underwent a wide range of tests for various infections, including tuberculosis, but results were negative. Eventually, doctors performed a lung biopsy, which revealed an infection with Burkholderia cepacia, a bacteria that can affect certain patients severely. The girl was diagnosed with chronic granulomatous disease (CGD), an immune disorder that makes it hard for her body to fight certain infections. This condition can lead to frequent infections and is often underdiagnosed. Treatment for CGD typically involves antibiotics to prevent infections, along with other medications. Stem cell transplants are an option for some patients and can significantly improve outcomes. Although the disease can be severe, early treatment has improved life expectancy for those affected.