OBJECTIVE: We sought to study HCT for p47phox CGD in North America.
METHODS: Thirty patients with p47phox CGD who received allogeneic HCT at Primary Immune Deficiency Treatment Consortium centers since 1995 were included.
RESULTS: Residual oxidative activity was present in 66.7% of patients. In the year before HCT, there were 0.38 CGD-related infections per person-years. Inflammatory diseases, predominantly of the lungs and bowel, occurred in 36.7% of the patients. The median age at HCT was 9.1 years (range 1.5-23.6 years). Most HCTs (90%) were performed after using reduced intensity/toxicity conditioning. HCT sources were HLA-matched (40%) and -mismatched (10%) related donors or HLA-matched (36.7%) and -mismatched (13.3%) unrelated donors. CGD-related infections after HCT decreased significantly to 0.06 per person-years (P = .038). The frequency of inflammatory bowel disease and the use of steroids also decreased. The cumulative incidence of graft failure and second HCT was 17.9%. The 2-year overall and event-free survival were 92.3% and 82.1%, respectively, while at 5 years they were 85.7% and 77.0%, respectively. In the surviving patients evaluated, ≥95% donor myeloid chimerism at 1 and 2 years after HCT was 93.8% and 87.5%, respectively.
CONCLUSIONS: Patients with p47phox CGD suffer from a significant disease burden that can be effectively alleviated by HCT. Similar to other forms of CGD, HCT should be considered for patients with p47phox CGD.
目的:研究北美p47phoxCGD的HCT。
方法:纳入了自1995年以来在初级免疫缺陷治疗联盟(PIDTC)中心接受同种异体HCT治疗的30例p47phoxCGD患者。
结果:66.7%的患者存在残余氧化活性。在HCT的前一年,有0.38个CGD相关感染/人年.炎症性疾病,主要是肺部和肠道,发生在36.7%的患者中。HCT的中位年龄为9.1岁(范围1.5-23.6岁)。大多数HCTs(90%)在使用降低的强度/毒性调节后进行。HCT来源是HLA匹配(40%)和不匹配(10%)相关的供体,或HLA匹配(36.7%)和不匹配(13.3%)的无关供体。HCT后CGD相关感染显着降低至0.06/人年(p=0.038)。炎症性肠病的频率和类固醇的使用也减少。移植物失败和第二次HCT的累积发生率为17.9%。2年总生存率和无事件生存率分别为92.3%和82.1%,分别,而在5年时,他们分别是85.7%和77.0%,分别。在评估的幸存患者中,>95%供者骨髓嵌合在1年和2年后HCT分别为93.8%和87.5%,分别。
结论:p47phoxCGD患者具有显著的疾病负担,可以通过HCT有效缓解。类似于其他形式的CGD,对于p47phoxCGD患者应考虑HCT。