Abstract:Chronic granulomatous disease (CGD) is a rare primary immunodeficiency and monogenic inherited disease, first reported in 1959. Initially believed to have only one X-linked inheritance pattern (XR), it was discovered in females in 1968 as an autosomal recessive (AR) form. It has been found that genetic patterns can be roughly divided into X-linked recessive inheritance with protein gp91phox deficiency and autosomal recessive inheritance with p47Phox deficiency as the main cause. Clinical manifestations include recurrent severe bacterial or fungal infections and excessive inflammatory diseases, which affect the growth and development, quality of life, and even threaten the lives of sick children.