Chronic granulomatous disease - Haematopoietic stem cell transplantation versus conventional treatment

Aim Chronic granulomatous disease (CGD) is a rare X-linked or autosomal recessive primary immune deficiency characterized by recurrent, life-threatening bacterial and fungal infections. Mortality rates are high with conventional treatment. However, haematopoietic stem cell transplantation (HSCT) offers cure. Here, we compare the outcome of HSCT in 14 Swedish patients with CGD to that in 27 patients with CGD who were given conventional treatment. Methods Forty-one patients in Sweden were diagnosed with CGD between 1990 and 2012. From 1997 to 2012, 14 patients with CGD, aged 1-35 years, underwent HSCT and received grafts either from an HLA-matched sibling donor or a matched unrelated donor. Results Thirteen of the 14 transplanted patients are alive and well. Mean age at transplantation was 10.4 years, and the mean survival time was 7.7 years. In contrast, seven of 13 Swedish men or boys with X-linked CGD who were treated conventionally died from complications of CGD at a mean age of 19 years, while the remaining patients suffered life-threatening infections. Conclusion The outcome of the patients who underwent HSCT supports HSCT as being the preferable treatment for severe CGD. Our results advocate early HSCT for all patients with X-linked CGD, using grafts from either a matched sibling donor or a matched unrelated donor. ©2013 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd.