The Treatments And Prognosis Of 50 Cases Of Cgd Patients In Single Center Of China

Background and aims Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by mutations in the NADPH oxidase in phagocytic leucocytes, leading to severe life-threatening bacterial and fungal infections. The most common treatments are prophylactic antibiotics sulfamethoxazole (SMZ) and occasionally antifungal or anti-tuberculosis therapy. Haemopoietic stem-cell transplantation (HSCT) is currently the only curative option for these patients. We summarized the treatments and prognosis of 50 cases of CGD patients in a single center in Chongqing, China. Methods 50 CGD patients were recruited between 2005 and 2017 based on clinical diagnosis, survival analysis was performed. The primary endpoints were overall survival and event-free survival (EFS), frequency of infections, incidence of acute and chronic graft-versus-host disease (GVHD) after at least 18 months of follow-up. Results SMZ was begun for all patients since diagnosis. The overall survival was 80%. Among the 50 patients enrolled, 20 X-linked CGD patients received HSCT with a success rate of 95%. 10 HLA-matched related-donor and 10 HLA-matched unrelated-donor transplants were done. The cumulative incidence of acute GVHD of grade I-II and grade III-IV were 60% and 5%, respectively. The myeloid donor chimerisms were all at least 94% except one 86.1%. Conservative treatment and HSCT decreased separately the frequency of infections to 5.1% and nearly 0 per 100 patient-months in patients. Conclusions Severe infections were the main cause of death and the overall mortality was still high in China. HSTC is a potentially curative therapy for CGD leading resolution of infections and complications. CGD children who had undergone HSCT have better quality of life and fewer infections compared with those treated conservatively.