Chronic granulomatous disease: the European experience.

CGD is an immunodeficiency caused by deletions or mutations in
genes that encode subunits of the leukocyte NADPH oxidase complex.
Normally, assembly of the NADPH oxidase complex in phagosomes of
certain phagocytic cells leads to a "respiratory burst", essential
for the clearance of phagocytosed micro-organisms. CGD patients
lack this mechanism, which leads to life-threatening infections and
granuloma formation. However, a clear picture of the clinical
course of CGD is hampered by its low prevalence (approximately
1:250,000). Therefore, extensive clinical data from 429 European
patients were collected and analyzed. Of these patients 351 were
males and 78 were females. X-linked (XL) CGD (gp91(phox) deficient)
accounted for 67% of the cases, autosomal recessive (AR)
inheritance for 33%. AR-CGD was diagnosed later in life, and the
mean survival time was significantly better in AR patients (49.6
years) than in XL CGD (37.8 years), suggesting a milder disease
course in AR patients. The disease manifested itself most
frequently in the lungs (66% of patients), skin (53%), lymph nodes
(50%), gastrointestinal tract (48%) and liver (32%). The most
frequently cultured micro-organisms per episode were Staphylococcus
aureus (30%), Aspergillus spp. (26%), and Salmonella spp. (16%).
Surprisingly, Pseudomonas spp. (2%) and Burkholderia cepacia
(