Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ 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 Your MyAccess profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth