AB027. Newly diagnosed chronic granulomatous disease in a thirty four year old woman with pneumocystis jiroveci pneumonia

Background: Chronic granulomatous disease is a rare primary immunodeficiency disorder which results from the absence or dysfunction of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase subunits in phagocytic cells. Chronic granulomatous disease is usually inherited in an X-linked recessive fashion and is associated with recurrent intracellular bacterial and fungal infections and granulomatous inflammation. To describe a 34-year-old woman with pneumocystis jiroveci pneumonia who was newly diagnosed as having chronic granulomatous disease.

Methods: A 34-year-old woman, current smoker, was admitted with high-grade fever, chills and pain in right hemithorax. A chest X-ray was performed which showed right lower lobe consolidation. The patient was recently hospitalized for community acquired pneumonia in the right lower lung lobe and received medication with ceftriaxone and azithromycin. There was no difference between the chest X-ray that was performed in her hospitalization and the one was performed at her admission. The patient was treated with intravenous ciprofloxacin and clindamycin. Computerized-tomography of the chest was performed which showed consolidation with air bronchogram in the right lower lobe and consolidation infiltrate partially with cavitation in the left lower lobe. The patient had no clinical and radiographic improvement. She underwent bronchoscopy with bronchoalveolar lavage and microbiological and immunological tests.

Results: The direct immunofluorescence test in bronchoalveolar lavage for P. jiroveci was positive. Trimethoprim-sulfamethoxazole was added to her treatment and the patient had complete resolution of clinical symptoms and radiographic improvement. The patient’s immune system was assessed. The subpopulations of lymphocytes were normal, the ranges of immunoglobulins were increased and the test for HIV was negative. There was lower residual superoxide production which confirmed the diagnosis of chronic granulomatous disease.

Conclusions: This is a rare case report of first diagnosis of chronic granulomatous disease in adult female patient with P. Jiroveci pneumonia. The disease is usually diagnosed in the first year of life. Most of the patients are men. Women are usually asymptomatic carriers of the abnormal gene and rarely develop active disease during their adult life. The manifestations of the disease are recurrent infections which are mostly pneumonia, abscesses, skin infections, osteomyelitis and arthritis and granulomas on the skin, the gastrointestinal and urogenital system. The treatment of the disease includes prophylactic antibiotics, immunomodulatory agents and in some cases hematopoietic stem cell transplantation.

Keywords: Pneumonia; chronic granulomatous disease; pneumocystic jiroveci