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 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 ...

In addition to increased susceptibility to infections in patients with chronic granulomatous disease (CGD), a higher incidence of sterile inflammatory disorders in these patients has been noted. However, sarcoidosis has not been reported previously in CGD. In this report, we describe two patients who have CGD and a disorder consistent with sarcoidosis on the basis of unequivocal clinical-radiog...

Patients with chronic granulomatous disease (CGD) have the highest life-time incidence of invasive aspergillosis and despite the availability of antifungal prophylaxis, infections by Aspergillus species remain the single most common infectious cause of death in CGD. Recent developments in curative treatment options, such as haematopoietic stem cell transplantation, will change the prevalence of...

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...

From the European Group for Blood and Marrow Transplantation (EBMT) and the European Society for Immunodeficiencies (ESID) 1: Division of Immunology/Hematology, University Children's Hospital, Zurich, Switzerland; 2: Dr. von Haunersches Kinderspital, Ludwig Maximilians University, Munich, Germany; 3: Unité d'Immuno-Hématologie et Service de Biostatistique, Hôpital Necker Enfants Malades, Paris,...