Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
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DOI：
10.1016/j.jaci.2018.08.024
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发表时间：
2019-03
期刊：
影响因子：
--
通讯作者：
Grunebaum E
中科院分区：
文献类型：
--
作者：
Kohn DB;Hershfield MS;Puck JM;Aiuti A;Blincoe A;Gaspar HB;Notarangelo LD;Grunebaum E
腺苷脱氨酶 (ADA) 的遗传性缺陷会导致严重联合免疫缺陷 (SCID) 亚型，称为 ADA-SCID。大多数受影响的婴儿可以在尚无症状时通过 SCID 新生儿筛查测试进行诊断，从而可以及早开始治疗。我们审查了当前可用的证据并提出了共识管理策略。除了治疗 ADA-SCID 的免疫缺陷外，还应对患者随访与 ADA 缺陷相关的特定非感染性呼吸系统、神经系统和生化并发症。所有患者最初都应接受酶替代疗法（ERT），然后使用两种相同的一线选择中的任何一种进行明确治疗。如果有 HLA 匹配的兄弟姐妹供体 (MSD) 或匹配的家庭供体 (MFD)，则应进行同种异体造血干细胞移植 (HSCT)。自 2000 年以来，在 100 多名接受 γ-逆转录病毒或慢病毒介导的自体造血干细胞基因治疗 (HSC-GT) 的 ADA-SCID 患者中观察到出色的安全性和有效性，现在使 HSC-GT 成为同等的替代方案。如果 MSD/MFD HSCT 或 HSC-GT 不可用或失败，可以继续或重新开始 ERT，并应考虑使用替代供体进行 HSCT。应在“现实生活”条件下前瞻性评估新型 HSCT、ERT 和 HSC-GT 策略的结果，以进一步为这些管理指南提供信息。
Inherited defects in adenosine deaminase (ADA) cause a subtype of severe combined immunodeficiency (SCID), known as ADA-SCID. Most affected infants can be diagnosed while still asymptomatic by a SCID newborn screening test, allowing early initiation of therapy. We reviewed the evidence currently available and propose a consensus management strategy. In addition to the treatment of the immune deficiency of ADA-SCID, patients should be followed for specific non-infectious respiratory, neurological and biochemical complications associated with ADA deficiency. All patients should initially receive enzyme replacement therapy (ERT), followed by definitive treatment with either of two equal first line options. If an HLA matched sibling donor (MSD) or matched family donor (MFD) is available, allogeneic hematopoietic stem cell transplantation (HSCT) should be pursued. The excellent safety and efficacy observed in over 100 ADA-SCID patients who received gamma-retrovirus or lentivirus mediated autologous hematopoietic stem cell gene therapy (HSC-GT) since 2000 now positions HSC-GT as an equal alternative. If MSD/MFD HSCT or HSC-GT are not available or have failed, ERT can be continued or re-instituted, and HSCT using alternative donors should be considered. The outcomes of novel HSCT, ERT and HSC-GT strategies should be evaluated prospectively in “real life” conditions to further inform these management guidelines.
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