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 (∼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 (<1%) were found only sporadically. Lesions induced by inoculation with BCG occurred in 8% of the patients. Only 71% of the patients received antibiotic maintenance therapy, and 53% antifungal prophylaxis. 33% were treated with γ-interferon. 24 patients (6%) had received a stem cell transplantation. The most prominent reason of death was pneumonia and pulmonary abscess (18/84 cases), septicemia (16/84) and brain abscess (4/84). These data provide further insight in the clinical course of CGD in Europe and hopefully can help to increase awareness and optimize the treatment of these patients.

Background: The process of maturation of the immune system leads to generation of various lymphoid cell populations having the ability to react in specific way and expressing various markers on the cell surface. The study was set up to establish reference values for B lymphocyte subpopulations in peripheral blood of children and young adults to find the spectrum of their physiological age‐related variation.Methods: Blood samples were taken from 292 children and young adults aged 0–31 years and tested for distribution of B cell subsets. Relative and absolute sizes of non‐memory and memory, transitional, naïve, immature marginal zone‐like/IgM‐only memory, class‐switched memory, double negative, activated, and plasmacytoid cell populations were determined by four‐color flow cytometry, based on differential expression of CD19, IgM, IgD, CD21, CD27, and CD38. Significant variation both in relative, as well as in absolute numbers of individual cell populations in tested groups was observed.Results: The reference values for age‐related B cell subsets in eleven age groups, established as result of this study, may be used in diagnostics of any pathology related to B cell maturation process, as well as in attempts of correlating laboratory results with clinical symptoms of many defects affecting antibody production in pediatric population.Conclusion: Determination of B cell subpopulations carried in patients with antibody deficiencies may help to understand the nature of the disease and prevent its complications. © 2010 International Clinical Cytometry Society