馬惠如(Hui-Ru Ma)穆淑琪(Shu-Chi Mu)楊曜旭(Yao Hsu Yang)陳中明(Chung-Min Chen)江伯倫(Bor Luen Chiang)2021-07-022021-07-0220030929-6646https://www.scopus.com/inward/record.uri?eid=2-s2.0-0043011395&partnerID=40&md5=9f4243263e693c1b4570382525e62004https://scholars.lib.ntu.edu.tw/handle/123456789/568040Chronic granulomatous disease (CGD) is an inherited phagocytic disorder caused by defective oxidative burst activity of neutrophils and monocytes. Patients with CGD may present with recurrent, life-threatening bacterial or fungal infections and often need repeated hospitalization as early as infancy. We report a case of a boy aged 3 years and 1 month with a history of oral thrush, chronic diarrhea, skin abscesses, multiple small joints osteomyelitis, and multiple liver abscesses since 2 months of age. X-linked chronic granulomatous disease was diagnosed by nitroblue tetrazolium test and further confirmed by genetic study using strand conformation polymorphism (SSCP) analysis and genomic DNA sequencing. Two episodes of aspergillosis with severe aspergillus lung empyema and life-threatening Klebsiella pneumoniae infections were noted in the first 2 years of life despite long-term prophylaxis with trimethoprim-sulfamethoxazole and itraconazole. Recombinant human interferon-gamma (rINF-γ) 50 μg/m2 subcutaneous injection 3 times per week was added after his last episode of severe infection. Thereafter, the boy had normal growth and development with no evidence of severe infection during 18 months of follow-up at our outpatient clinic.[SDGs]SDG3cotrimoxazole; genomic DNA; itraconazole; nitroblue tetrazolium; recombinant gamma interferon; anamnesis; article; aspergillosis; Aspergillus fumigatus; case report; cell activity; child development; child growth; chronic diarrhea; chronic granulomatous disease; disease severity; DNA sequence; dose response; drug effect; follow up; genetic analysis; Gram negative infection; human; inheritance; Klebsiella pneumoniae; liver abscess; male; monocyte; neutrophil; nitroblue tetrazolium test; osteomyelitis; outpatient care; phagocyte dysfunction; pleura empyema; preschool child; prophylaxis; respiratory burst; single strand conformation polymorphism; skin abscess; thrush; X chromosome linkage; Antiviral Agents; Aspergillosis; Child, Preschool; Granulomatous Disease, Chronic; Humans; Interferon-gamma, Recombinant; Klebsiella Infections; Klebsiella pneumoniae; Lung Diseases, Fungal; Male; Treatment Outcomejournal article127831372-s2.0-0043011395