Chronic granulomatous disease

Definition

Chronic granulomatous disease (CGD) is a genetic disorder where phagocytes, a type of immune cell, are unable to effectively kill certain bacteria and fungi. This results in the formation of granulomas, which are clusters of immune cells that attempt to contain the infection.

5 Must Know Facts For Your Next Test

1. CGD is caused by mutations in genes responsible for producing components of the NADPH oxidase enzyme complex.
2. Patients with CGD often suffer from recurrent bacterial and fungal infections starting in childhood.
3. Infections commonly affect the lungs, skin, lymph nodes, and liver.
4. The diagnosis of CGD can be confirmed through tests such as the nitroblue tetrazolium (NBT) test or dihydrorhodamine (DHR) flow cytometry test.
5. Treatment options include prophylactic antibiotics and antifungals, interferon-gamma therapy, and hematopoietic stem cell transplantation.

Related terms

Granuloma: A mass or nodule of chronically inflamed tissue with granulations.

Phagocyte: A type of immune cell that engulfs and digests foreign particles and pathogens.

NADPH Oxidase:

An enzyme complex crucial for generating reactive oxygen species used by phagocytes to kill pathogens.