OBJECTIVE To report the case of two siblings with chronic granulomatous disease. Chronic granulomatous disease is a primary immunodeficiency disorder characterized by abnormal microbicidal activity. Mutations in the p47-phox gene (NCF-1) are present in about 30% of the patients with chronic granulomatous disease; this group presents a better prognosis and later onset of recurrent infections as ...

Background and Purpose: Chronic granulomatous disease (CGD) is an inherited disorder of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. This disorder results in recurrent life-threatening bacterial and fungal infections. Aspergillus species are the most common fungal infections in these patients. Case Report: Herein, we present a case of fungal infection in a girl wi...

BACKGROUND Analysis of the functional activity of neutrophils is of great importance in the differential diagnosis of patients with recurrent bacterial infections. It has long been established that stimulated polymorphonuclear leukocytes reduce nitroblue tetrazolium. Application of a simple and reliable nitroblue tetrazolium method that clearly differentiates the chronic granulomatous disease p...

The records of 28 patients with chronic granulomatous disease born over a 32 year period were reviewed. The characteristics of the group, and the frequency with which various clinical and laboratory features had been recorded, was assessed. Nine patients were known to have died, in most cases of progressive suppurative infection. Actuarial analysis showed 50% survival through the third decade o...

BACKGROUND Involvement of the gut in chronic granulomatous disease (CGD) has been previously described and colitis highlighted. However, the nature and histopathology of the colitis are unclear and have been thought to be non-specific or similar to Crohn's disease. METHODS Seven patients with CGD, suffering from gastrointestinal symptoms were prospectively studied. RESULTS All patients had ...

OBJECTIVE: To report a case of rare neutrophil functional disorder with clinical and laboratory findings similar to those of chronic granulomatous disease. METHODS: Patient with extremely reduced level of glucose-6-phosphate dehydrogenase and recurrent infections that improved after continuous use of cotrimoxazole. The patient presented leukocytes with defective respiratory burst, similar to wh...