LAUSR

Background Chronic granulomatous disease (CGD) is a hereditary immunodeficiency caused by mutations in genes encoding nicotinamide adenine dinucleotide phosphate oxidase enzyme complex, which lead to the inability to kill intracellular pathogens. Patients with CGD are susceptible to recurrent bacterial and fungal infections in their early lives. Although the recent survival rate has been significantly improved, early diagnosis is critical to prevent multiple organ impairment. In 1950s, CGD was first described as a disease with recurrent infections and visceral infiltration of granulomas and pigmented histiocytes. Bronchoalveolar lavage (BAL) is commonly performed for patients with CGD; however, no study has described the cytologic features of alveolar macrophages. Methods Cytology of 20 BALs from 11 CGD patients was examined. The greatest diameters of randomly selected 100 alveolar macrophages in each BAL were measured using image analysis and compared with 20 disease control BALs from non-CGD patients. Macrophages from 2 groups were compared with repeated measures mixed-model analysis. Ultrastructural analysis was performed on a representative CGD BAL. Results BALs from CGD patients showed variable numbers of neutrophils and lipid-laden macrophages. Macrophages in CGD BALs were significantly larger than disease control BALs (P < .0001) and showed “foamy” vacuolated cytoplasm. Ultrastructural analysis revealed the macrophages filled with enlarged lysosomes containing lipofuscin-like materials, which made their appearance “foamy.” Conclusion In this study, we demonstrate novel BAL findings in CGD patients. The presence of enlarged “foamy” alveolar macrophages is not specific for CGD, but CGD should be considered as a differential diagnosis when foamy macrophages are present.