Primary immunodeficienciesChronic granulomatous disease: Overview and hematopoietic stem cell transplantation
Section snippets
Infection
Despite the significant progress made in antibiotic and antifungal therapy and prophylaxis, patients with CGD still have serious infections. Most large studies have shown an infection rate of around 0.15 to 0.3 per year.4, 5, 6 The US National Institutes of Health (NIH) has followed more than 250 patients with CGD over almost 40 years, the majority of whom were given diagnoses after infections of the skin, lymph node, lung, or liver. A small group of patients (approximately 5%) were identified
Inflammatory complications and autoimmunity in patients with CGD
Dysregulated inflammation in patients with CGD typically occurs in response to a trigger and might be due to either increased proinflammatory or decreased anti-inflammatory mediators. Patients with CGD frequently experience inflammatory complications, and some might have autoimmune problems.30
Other than infection, a characteristic feature of CGD is granulomatous inflammation. CGD granulomas are typically noncaseating, are composed of multinucleated giant cells, and can be found in multiple
Hematopoietic stem cell transplantation for patients with CGD
Currently, the only known cure for CGD is allogeneic hematopoietic cell transplantation. Historically, this has only been reluctantly offered because of the risks of procedure-related morbidity and mortality. Additionally, unrelated donor transplantations were riskier than sibling transplantations, and the pool of donors was limited. From 1973, when the first CGD bone marrow transplant was performed, until now, the results of 99 transplantations, not including cord blood recipients, have been
Discussion
Allogeneic stem cell transplantation for CGD is becoming more common and reflects increased overall success. Survival has increased from approximately 85% before 2000 to 90% to 95% based on recently reported outcomes and our own results, even with the use of unrelated donors. In fact, outcomes with perfectly HLA-matched unrelated donors appear to approach, if not equal, those using HLA sibling donors. This suggests that donor availability should not be limiting for transplantation in patients
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Series editors: Donald Y. M. Leung, MD, PhD, and Dennis K. Ledford, MD
Supported by the Intramural Research Program of the NIH, the National Institute of Allergy and Infectious Diseases.