de la Morena M Teresa, Nelson Robert P
Division of Allergy and Immunology, University of Texas Southwestern Medical Center in Dallas and Children's Medical Center Dallas, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA,
Clin Rev Allergy Immunol. 2014 Apr;46(2):131-44. doi: 10.1007/s12016-013-8379-6.
Hematopoietic cell transplantation (HCT) is a curative therapeutic option for severe combined immunodeficiency (SCID), a group of diseases which otherwise carry life expectancies that are of limited duration and quality. Survival following HCT for SCID has improved from approximately 23 to 91 % over the last 40 years. Success with SCID prompted efforts to apply HCT to the therapeutic challenge of well over 20 molecularly defined primary immune deficiency diseases (PID). Such success is due to both early recognition of PIDs and advances in the field of transplantation. Such advances include high-resolution HLA DNA donor-recipient matching, expansion of donor sources, better tolerated conditioning, new antibiotics, and wider availability. International collaborative efforts have provided patients and caregivers information that permit better treatment decisions now, and direct clinicians and investigators to ensure progress in the future. Pioneers in screening for SCID have taken steps to correct the fundamental challenge to successful treatment, which is the rapid discovery and characterization of cases and offering the transplant option to an affected child early in life; blood spot testing for T and B cell receptor quantification is now available to a growing fraction of newborns. Organizations including the Primary Immune Deficiency Treatment Consortium in the USA, The European Society for Primary Immunodeficiency, the European Group for Blood and Marrow Transplantation, the Pediatric Blood and Marrow Transplant Consortium, the United States Immunodeficiency Network, the Immune Deficiency Foundation, and the Jeffrey Modell Foundation are contributing mightily to increase awareness and standardize optimal utilization to the benefit of patients. This review will update the allergist-immunologist concerning disease presentations, indications for transplantation, methodologies, conditioning regimens, and clinical outcomes for patients with PID for which timely HCT is critical.
造血细胞移植（HCT）是治疗重症联合免疫缺陷病（SCID）的一种治愈性疗法，SCID是一组疾病，否则患者的预期寿命有限且质量不高。在过去40年中，接受HCT治疗的SCID患者生存率已从约23%提高到91%。SCID治疗的成功促使人们努力将HCT应用于20多种分子明确的原发性免疫缺陷病（PID）的治疗挑战中。这种成功既得益于对PID的早期识别，也得益于移植领域的进展。这些进展包括高分辨率HLA DNA供体-受体匹配、供体来源的扩大、耐受性更好的预处理、新型抗生素以及更广泛的可及性。国际合作努力为患者及其护理人员提供了信息，使他们现在能够做出更好的治疗决策，并指导临床医生和研究人员确保未来取得进展。SCID筛查的先驱们已采取措施应对成功治疗的根本挑战，即快速发现和确诊病例，并在患病儿童生命早期为其提供移植选择；现在越来越多的新生儿可进行T和B细胞受体定量的血斑检测。包括美国原发性免疫缺陷治疗联盟、欧洲原发性免疫缺陷学会、欧洲血液和骨髓移植组、儿科血液和骨髓移植联盟、美国免疫缺陷网络、免疫缺陷基金会以及杰弗里·莫德尔基金会在内的组织，都在大力提高人们的认识并规范最佳利用方法，以造福患者。本综述将向过敏症专科医生和免疫学家介绍PID患者的疾病表现、移植指征、方法、预处理方案和临床结果，对于这些患者而言，及时进行HCT至关重要。
