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Key Features

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  • 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

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Clinical Findings

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  • 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

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Diagnosis

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  • 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

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Treatment

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  • 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

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