Chronic granulomatous disease

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Disease Overview

Chronic granulomatous disease (CGD) is a rare, inherited immunodeficiency that affects certain white blood cells. People with this condition have immune systems that do not function properly, leaving the body vulnerable to chronic inflammation and frequent bacterial and fungal infections. The features of this condition usually develop in infancy or early childhood; however, milder forms may be diagnosed in the teen years or even in adulthood.[8247][8248] It is caused by changes (mutations) in any one of five different genes and is usually inherited in an autosomal recessive or X-linked recessive manner.[8249] Treatment consists of continuous therapy with antibiotic and antifungal medications to treat and prevent infections.[8247][8250] The only cure for the disease is an allogeneic hematopoietic stem cell transplantation (HSCT).[12614] 


Synonyms

  • Granulomatous disease, chronic

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National Organization for Rare Disorders