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Chronic Granulomatous Disease (CGD)

Chronic Granulomatous Disease (CGD): Definition and Characteristics

What is Chronic Granulomatous Disease?

Chronic Granulomatous Disease (CGD) is a rare inherited disorder in which certain white blood cells called phagocytes cannot produce reactive oxygen species necessary to kill certain bacteria and fungi. This defect leads to recurrent, severe bacterial and fungal infections and the formation of granulomas—clusters of immune cells—that can cause tissue damage in various organs.

Characteristics

Mechanism: CGD results from genetic mutations in components of the NADPH oxidase enzyme complex, impairing the respiratory burst that usually destroys pathogens. This defect allows pathogens to survive inside phagocytes, triggering persistent infections and inflammation.
Symptoms: Patients commonly experience recurrent infections in the lungs, skin, lymph nodes, liver, gastrointestinal tract, bones, and other tissues. Symptoms include fever, pneumonia, swollen lymph nodes, persistent runny nose, skin irritation, mouth sores, abdominal pain, diarrhea, colitis, and abscesses. Delayed growth and hepatosplenomegaly may also occur.
Risk Factors: CGD is usually inherited in X-linked or autosomal recessive patterns. Family history and genetic mutations increase susceptibility, while environmental exposure to fungi and bacteria can trigger infections.

Clinical Significance

CGD poses significant risks of life-threatening infections and inflammatory complications. Early diagnosis through clinical evaluation and genetic testing is critical. Management includes prophylactic antibiotics and antifungals, interferon-gamma therapy, prompt treatment of infections, and in some cases, bone marrow transplantation. Awareness and preventive care help reduce morbidity and improve quality of life.

Key Points

• CGD is an inherited immune deficiency characterized by defective pathogen killing by phagocytes.
• It leads to recurrent bacterial and fungal infections and granulomatous inflammation.
• Symptoms span multiple organ systems and include pneumonia, lymphadenitis, colitis, and skin infections.
• Diagnosis relies on clinical, genetic, and laboratory assessments.
• Treatment focuses on infection prevention, management, and in some cases, curative transplantation.

Consult with Our Team of Experts Now!

For expert diagnosis, genetic counseling, and personalized management using Cellular Therapy and Stem Cells of CGD and related infections, consult our immunology and infectious disease specialists.

References:

1. De Ravin SS, Naumann N, Cowen EW, et al. Chronic Granulomatous Disease: Clinical Features and Advances in Treatment. J Allergy Clin Immunol Pract. 2025 Feb;13(2):386-399. doi:10.1016/j.jaip.2024.10.031. Available at: https://doi.org/10.1016/j.jaip.2024.10.031
2. Roos D. Chronic Granulomatous Disease. Hematol Oncol Clin North Am. 2025 Apr;39(2):253-270. doi:10.1016/j.hoc.2025.01.006. Available at: https://doi.org/10.1016/j.hoc.2025.01.006
3. Holland SM. Chronic Granulomatous Disease. Clin Rev Allergy Immunol. 2024 Dec;67(3):267-289. doi:10.1007/s12016-024-08847-9. Available at: https://doi.org/10.1007/s12016-024-08847-9
4. Marciano BE, Huang CY, Jospe NS, et al. Long-Term Outcomes and Treatment Advances in Chronic Granulomatous Disease. J Clin Immunol. 2025 Jan;45(1):1-12. doi:10.1007/s10875-024-01168-y. Available at: https://doi.org/10.1007/s10875-024-01168-y
5. van de Vijver E, de Weerdt O, Roos D. Genetic Basis, Clinical Presentation, and Therapeutic Options in Chronic Granulomatous Disease. Front Immunol. 2024 Nov 20;15:1145009. doi:10.3389/fimmu.2024.1145009. Available at: https://doi.org/10.3389/fimmu.2024.1145009