Wolska-Kuśnierz Beata, Gennery Andrew R
Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
Front Pediatr. 2020 Jan 15;7:557. doi: 10.3389/fped.2019.00557. eCollection 2019.
The ubiquitous presence of enzymes required for repair of DNA double strand breaks renders patients with defects in these pathways susceptible to immunodeficiency, an increased risk of infection, autoimmunity, bone marrow failure and malignancies, which are commonly associated with Epstein Barr virus (EBV) infection. Treatment of malignancies is particularly difficult, as the nature of the systemic defect means that patients are sensitive to chemotherapy and radiotherapy. Increasing numbers of patients with Nijmegen Breakage syndrome, Ligase 4 deficiency and Cernunnos-XLF deficiency have been successfully transplanted. Best results are obtained with the use of reduced intensity conditioning. Patients with ataxia-telangiectasia have particularly poor outcomes and the best treatment approach for these patients is still to be determined.
DNA双链断裂修复所需酶的普遍存在，使得这些途径存在缺陷的患者易患免疫缺陷、感染风险增加、自身免疫性疾病、骨髓衰竭和恶性肿瘤，这些情况通常与爱泼斯坦-巴尔病毒（EBV）感染有关。恶性肿瘤的治疗尤其困难，因为全身性缺陷的性质意味着患者对化疗和放疗敏感。越来越多患有尼曼匹克氏症候群、连接酶4缺乏症和Cernunnos-XLF缺乏症的患者已成功接受移植。采用降低强度预处理可获得最佳效果。共济失调毛细血管扩张症患者的预后特别差，这些患者的最佳治疗方法仍有待确定。
