Granulomatous disease, chronic
Chronic Granulomatous Disease[edit | edit source]
Chronic Granulomatous Disease (CGD) is a rare, inherited immunodeficiency disorder that affects the body's ability to fight certain infections. It is characterized by the formation of granulomas, which are clusters of immune cells that form in response to chronic inflammation.
Pathophysiology[edit | edit source]
CGD is caused by a defect in the NADPH oxidase complex, an enzyme system in phagocytes that is responsible for producing reactive oxygen species (ROS). These ROS are crucial for killing certain bacteria and fungi. In individuals with CGD, the inability to produce ROS leads to recurrent infections and the formation of granulomas.
Genetics[edit | edit source]
CGD is most commonly inherited in an X-linked recessive pattern, meaning the defective gene is located on the X chromosome. This form of CGD primarily affects males. However, there are also autosomal recessive forms of CGD, which can affect both males and females.
Clinical Manifestations[edit | edit source]
Patients with CGD typically present with recurrent bacterial and fungal infections. Common pathogens include Staphylococcus aureus, Aspergillus species, and Nocardia species. Infections often affect the lungs, skin, lymph nodes, and liver. Granuloma formation can lead to complications such as bowel obstruction or urinary tract obstruction.
Diagnosis[edit | edit source]
Diagnosis of CGD is based on clinical history, family history, and laboratory tests. The nitroblue tetrazolium (NBT) test and the dihydrorhodamine (DHR) flow cytometry test are commonly used to assess the function of the NADPH oxidase complex.
Management[edit | edit source]
Management of CGD involves preventing and treating infections. Prophylactic antibiotics and antifungals are often used. Interferon-gamma therapy may also be beneficial. In some cases, hematopoietic stem cell transplantation (HSCT) can be curative.
Prognosis[edit | edit source]
With advances in treatment, the prognosis for individuals with CGD has improved significantly. However, they remain at risk for serious infections and complications related to granuloma formation.
Research[edit | edit source]
Ongoing research in CGD includes gene therapy approaches aimed at correcting the genetic defect in affected individuals.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Granulomatous disease, chronic is a rare disease.
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