Clinical data from ADA-SCID patients registered in the U.S. Immunodeficiency Network (USIDNet) Repository were analyzed. Sixty-four ADA-SCID patients born between 1981 and 2017 had clinical data entered by their local (or home) enrolling institution. Median age at diagnosis was 1 month for those with a positive family history and 3 months for those without a prior family history, with some diagnosed at birth and one as late as 9 years of age. Overall survival was 79.7%, which increased to 94.1% since 2010. These patients had multiple infections and pulmonary, gastrointestinal, and neurological complications. The majority received enzyme replacement therapy (ERT) at some time, including 88% of those born since 2010. Twenty-six patients underwent allogeneic hematopoietic stem cell transplant (HSCT). HSCT successfully supported survival (17/26, 65%) using a variety of cell sources (bone marrow, mobilized peripheral blood, and cord blood) from sibling, family and unrelated donors. Nineteen patients underwent autologous HSCT with gene therapy (GT) using retroviral and lentiviral vectors and all are surviving. The prognosis for patients with ADA-SCID has continued to improve but these patients do have multiple early and potentially long-term conditions that require medical monitoring and management.

对在美国免疫缺陷网络 (USIDNet) 存储库中注册的 ADA-SCID 患者的临床数据进行了分析。 1981 年至 2017 年间出生的 64 名 ADA-SCID 患者的临床数据由其当地（或家庭）登记机构输入。有阳性家族史的患者诊断时的中位年龄为 1 个月，无家族史的患者诊断时的中位年龄为 3 个月，有些在出生时就被诊断出来，有的则晚至 9 岁。总生存率为79.7%，自2010年以来增加至94.1%。这些患者存在多种感染以及肺部、胃肠道和神经系统并发症。大多数患者曾在某个时间接受过酶替代疗法 (ERT)，其中 2010 年以来出生的患者中占 88%。26 名患者接受了同种异体造血干细胞移植 (HSCT)。 HSCT 使用来自兄弟姐妹、家人和无关捐赠者的多种细胞来源（骨髓、动员的外周血和脐带血）成功支持了生存（17/26，65%）。 19 名患者接受了使用逆转录病毒和慢病毒载体进行基因治疗 (GT) 的自体 HSCT，全部存活。 ADA-SCID 患者的预后持续改善，但这些患者确实患有多种早期和潜在的长期疾病，需要医疗监测和管理。