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| Disease found: | Chronic Granulomatous Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | Group of genetic defects all causing deficiency in NADPH oxidase; prevents the respiratory burst used by some WBCs (neutrophils, monocytes, eosinophils, macrophages) to kill pathogens; especially increased susceptibility to catalase-postivie organisms [more info] |
| Signs and Symptoms: | Serious recurrent fungal and bacterial infections, often beginning early in life, with development of widely-distributed granulomas. Infections commonly affect the lungs, skin, bone, liver. Granulomas commonly seen in the GI and GU tracts, causing nausea, vomiting, diarrhea, bloody stool, abscesses, digestive trouble. [more info] |
| Diagnosis: | Diagnosis made by reduced NADPH oxidase activity as measured most commonly by flow cytometry with dihydrorhodamine (DHR); nitroblue tetrazolium (NBT) reduction is an older test method. [more info] |
| Treatment: | Acute infections should be aggressively treated with prolonged therapy. Prophylactic antibiotic and antifungal therapy with trimethoprim-sulfamethoxazole and itraconazole is recommended for all patients. IFN-gamma prophylaxis and acute treatment may be considered as well; recent FDA approval and outcomes studies are underway. [more info] |
| Clinical Management: | Prophylactic antibiotic/antifungal therapy should be given for life. Corticosteroids and immunomodulatory drugs may be needed to control CGD-associated inflammation. Stem cell transplant may be an option for patients with severe retractable disease. [more info] |
| Referral: | Referral to an immunologist and/or infectious disease specialist is recommended. The Immune Deficiency Foundation offers a clinician database search. Patients can be referred to one of three payment assistance programs specific for CGD.Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Numerous clinical trials, including some trials of gene therapy, are currently recruiting in the United States and worldwide. |