Chronic granulomatous disease is a primary immunodeficiency caused by abnormities in the NADPH oxidase.It is rare clinically and mortality is high.Most patients present with the repeated and fatal infections.Local granuloma can easily lead to local obstruction.At present, there are several specific diagnostic methods for chronic granulomatous disease, including p-nitro-blue tetrazolium chloride, dihydrorhodamine 123 and gene sequence analysis, etc.Hematopoietic stem cell transplantation is the only radical method.Appropriate timing of transplantation is critical to improve the success rate of transplantation.Gene therapy still has a long way to clinical use due to effectiveness and safety.This review describes recent progress in the study of pathogenesis, early diagnosis, treatment of chronic granulo matous disease.

Chronic granulomatous disease; Haematopoietic stem cell transplantation; Gene therapy