Granulomatous Disease, Chronic

Key Features

• Recurrent infections with catalase-positive bacteria and fungi

• Caused by abnormal phagocytosis-associated generation of microbicidal oxygen metabolites (respiratory burst) by neutrophils, monocytes, and macrophages

• Most cases (probably 75%) are inherited as an XL recessive trait; the rest are AR in inheritance

Clinical Findings

• Recurrent abscess formation in subcutaneous tissue, lymph nodes, lungs, and liver

• Pneumonia

• Eczematous and purulent skin rashes

• Aspergillosis is also common and a frequent cause of death

• Lymphadenopathy and hepatosplenomegaly

• Granulomatous inflammation can narrow the outlet of the stomach or bladder, leading to vomiting or urinary obstruction

Diagnosis

• Patients typically present with serious infection, positive microbial cultures, and neutrophilia

• Most common infecting organisms

  • Staphylococcus aureus

  • Aspergillus species

  • Burkholderia cepacian

  • Serratia marcescens

• Patients also present with granulomas of lymph nodes, skin, liver, and genitourinary tract

• Erythrocyte sedimentation rate may be elevated without obvious infection

• Diagnosis is confirmed by demonstrating lack of hydrogen peroxide production using the DHR flow cytometry assay or lack of superoxide production using the NBT test

Treatment

• Daily intake of an antimicrobial agent such as trimethoprim-sulfamethoxazole is indicated in all patients

• Oral antifungal agent like itraconazole and regular subcutaneous injections of interferon-γ can greatly reduce the risk of severe infections

• Gastric or genitourinary obstruction can be relieved by short-term corticosteroid therapy