Abstract
OBJECTIVES: Chronic granulomatous disease (CCD) is a rare inherited immunodeficiency Affected children are mostly boys. The most common clinical features are recurrent bacterial and fungal infections starting at early childhood. We report 14 cases, including 5 girls, of CCD in Tunisian children.
PATIENTS AND METHODS: This retrospective study concerned 14 clinical observations of CGD recorded between April 1988 and December 1998. The diagnosis was established upon determination of a defective respiratory burst in the patients' neutrophils at the tetrazolium nitroblue lest (NBT). In 4 cases, the diagnosis was also confirmed by chemiluminescence assay.
RESULTS: The patients (9 boys and 5 girls) belonged to 12 families, 75% of which were consanguineous. In 6 families, there had been several deaths in early childhood. The mean age at onset of clinical signs was 6.8 months (7 days to 24 months). Clinical signs included lung (10 cases), nodal (8 cases), skin (7 cases), and intestinal (7 cases) infections. Seven patients developed invasive pulmonary aspergillosis with parietal extension in 4 cases. Salmonella and Staphylococcus infections were rare in our series. Six children (42.8%) including 2 girls, died. Aspergillosis was fatal in 4 cases.
CONCLUSION: Recurrent infections are the main clinical featues of chronic granulomatous disease. Prognosis has been improved by the use of prophylactic antibiotics. Early diagnosis of the disease is crucial.