Study progress of chronic granulomatous disease in children / 中华实用儿科临床杂志

ABSTRACT

Chronic granulomatous disease(CGD)is a rare primary immunodeficiency disease with X-linked or autosomal pattern of inheritance, which belongs to monogenic disorders, mainly manifested in repeated infection, granuloma formation caused by inflammatory response disorder and other inflammatory diseases.Detection of neutrophil respiratory burst function can screen the disease, and gene sequence analysis can identify the pathogenic genes.Now, the latest research on gene therapy was updated, and the clinical manifestations, diagnosis, routine treatment and hemato-poietic stem cell transplantation(HSCT)were summarized in order to strengthen the clinicians′ understanding of CGD.