Pathogenesis:
X-linked recessive mutation of NADPH oxidase
Impaired respiratory burst & ↓ reactive oxygen species → inhibition of phagocytic intracellular killing
Clinical features:
Recurrent infections with catalase-positive bacteria & fungi
Staphylococcus aureus, Burkholderia (Pseudomonas) cepacia, Serratia marcescens, Nocardia, Aspergillus.
Lungs, skin, liver, lymph node involvement
Diffuse granulomas (eg, gastrointestinal, genitourinary)
Diagnosis: Measurement of neutrophil superoxide production:
dihydrorhodamine flow cytometry (preferred)
nitroblue tetrazolium testing
Treatment / management:
Prophylaxis: TMP-SMX, itraconazole, interferon gamma
Active infection: culture-based, antimicrobial therapy
Hematopoietic cell transplant is curative
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