A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation.
A type of inflammation where macrophages are converted into epithelial-like cells as a result of infection, as in tuberculosis or sarcoidosis.
Chronic granulomatous disease (CGD) is a rare genetic syndrome characterized by susceptibility to recurrent severe infections and associated with immune dysfunction. It is inherited as either an X-linked or an autosomal recessive genetic disorder. At least eight subtypes are recognized, but one X-linked subtype accounts for the majority of CGD cases. Most patients present with CGD before 2 years of age. Prevalence is approximately 1 in 500,000 individuals.
A rare, congenital, and often fatal immunodeficiency marked by recurrent infections caused by a defect in white blood cells. The polymorphonuclear leukocytes of affected children are able to ingest but not kill certain bacteria. Chronic granulomatous disease occurs mostly in boys with X-linked (i.e., sex- linked) inheritance, although an autosomal recessive variant of the disease is also known. Twenty percent of reported cases occur in girls. Manifestations of this disease include widespread granulomatous lesions of the skin, lungs, and lymph nodes. Also present are hypergammaglobulinemia, anemia, and leukocytosis.