Visceral leishmaniasis and other severe infections in an adult patient with p47-phox-deficient chronic granulomatous disease

We report a rare case of a male patient without known immunodeficiency cons ecutively diagnosed with visceral leishmaniasis, brain abscess and cavitati ng pneumonia in the 3rd decade of life. Chronic granulomatous disease (CGD) was diagnosed by a nitroblue tetrazolium test. A p47-phox mutation of the NADPH oxidase of the leukocytes was suspected by immunoblotting and confirm ed by DNA analysis. The patient was homozygous for this mutation while his mother and sister were heterozygous asymptomatic carriers. After the CGD di agnosis the patient started a chronic prophylactic regimen with subcutaneou s interferon-gamma (0.05 mg/m(2) of body surface/three times a week), and o ral trimethoprim-sulfamethoxazole and itraconazole (both at 5 mg/kg/day) wi th no subsequent infections after 12 months of follow-up.