Chronic granulomatous disease with pulmonary mass-like opacities secondary to hypersensitivity pneumonitis: a case report.

INTRODUCTION: Chronic granulomatous disease, one of the primary immunodeficiency syndromes, is characterized by failure of phagocytic capacity due to loss of reactive oxygen species production, as well as formation of granulomas in organs. Clinically, dysregulated inflammation by excessive cytokine production due to loss of reactive oxygen species production is suggested as a cause of noninfectious inflammatory problems such as chronic granulomatous disease colitis. We experienced a rare case of a patient with chronic granulomatous disease with unique pathological and radiological presentations of hypersensitive pneumonitis, which to our knowledge has never been previously reported.

CASE PRESENTATION: A 20-year-old Japanese man with chronic granulomatous disease was referred due to cough and abnormal chest imaging findings. Computed tomography of his chest showed diffuse, bilateral, centrilobular nodules and multiple mass lesions in lower lobes that do not fit a common image of hypersensitivity pneumonitis. Pathological findings of both nodules and mass lesions on surgical lung biopsy were homogeneous, and excessive granulomas in the bronchioles and alveolar duct as well as lymphocytic alveolitis were seen, all consistent with hypersensitivity pneumonitis. The radiological and laboratory abnormalities did not improve after antigen avoidance; however, they disappeared after high-dose steroid therapy.

CONCLUSIONS: When we encounter a case of hypersensitive pneumonitis showing atypical pulmonary mass-like opacities in a patient with chronic granulomatous disease, we should consider hyperinflammatory status and excessive granuloma formation of chronic granulomatous disease and start with high-dose steroid therapy as treatment.