21 research outputs found
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 (<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 gamma-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
Cumulative survival of AR patients compared to XL patients.
<p><i>*Log rank statistics for difference in survival between X-linked and AR: 7.01 (p = 0.0081)</i>.</p
Most frequently isolated micro-organisms.
<p>Most frequently isolated micro-organisms.</p
Prevalence of liver abscess and causative micro-organisms.
<p>Prevalence of liver abscess and causative micro-organisms.</p
Prophylactic and curative treatment.
<p>Percentages of patients who received above-mentioned therapies at one point during their lives.</p
Site of disease.
<p>The total number of reported episodes in all patients is compared to the number of patients who has suffered from ≥1 episode in absolute numbers and percentage of the total group (n = 429).</p
Distribution of different subtypes of CGD according to sex.
*<p>Female X-linked patients are extremely lyonized heterozygous carrriers.</p