Chronic granulomatous disease (CGD) is caused by a defect in phagocytes NADPH oxidase complex that is responsible for the phagocytes respiratory burst
The screening diagnostic test is the oxidative burst test
Patients with X-linked forms usually present in the first years of life but autosomal recessive forms may present later and be milder
The first-line curative treatment in CGD is hematopoietic stem cell transplantation
KeywordsChronic granulomatous disease NADPH oxidase Oxidative burst test Leishmania donovani Kala Azar
- 2.Rosenzweig SD, Holland S. Chronic granulomatous disease: pathogenesis, clinical manifestations, pathogenesis. In: UpToDate. Wolters Kluwer. 2017. https://www.uptodate.com/contents/chronic-granulomatous-disease-pathogenesis-clinical-manifestations-and-diagnosis. Accessed 27 Nov 2017.