Department of Pediatrics, Division of Allergy and Immunology, Louisiana State University Health Sciences Center New Orleans and Children's Hospital New Orleans, New Orleans, LA, USA.
Clin Rev Allergy Immunol. 2023 Aug;65(1):19-30. doi: 10.1007/s12016-022-08950-0. Epub 2022 Jul 1.
Primary immunodeficiency is a group of disorders associated with susceptibility to infectious agents and the development of various comorbidities. Many primary immunodeficiencies are complicated by immune dysregulation, autoinflammation, or autoimmunity which impacts multiple organ systems. Major advances in the treatment of these disorders have occurred over the last half-century, and deeper molecular understanding of many disorders combined with clinically available genetic testing is allowing for use of precision therapy for several primary immunodeficiencies. Patients with antibody deficiencies who rely on immunoglobulin replacement therapy now have many treatment options with products that are much safer and better tolerated compared to the past. Newborn screening for severe combined immunodeficiency, now implemented throughout the USA and in many countries worldwide, has lowered the age at which many patients are diagnosed with these diseases. Early diagnosis of severe combined immunodeficiency allows infants to proceed to definitive therapy such as stem cell transplantation or gene therapy prior to facing potentially life-threatening infections. While stem cell transplantation continues to carry significant risks, knowledge gained over recent decades is allowing for improved survival with less toxicity and less graft versus host disease.
原发性免疫缺陷是一组与易感性感染因子和多种合并症发展相关的疾病。许多原发性免疫缺陷病伴有免疫失调、自身炎症或自身免疫，影响多个器官系统。在过去的半个世纪中，这些疾病的治疗取得了重大进展，许多疾病的分子理解的加深以及临床可用的基因检测，使得几种原发性免疫缺陷病能够采用精准治疗。依赖免疫球蛋白替代治疗的抗体缺陷患者现在有许多治疗选择，与过去相比，这些产品更加安全且耐受性更好。严重联合免疫缺陷症的新生儿筛查现已在美国和世界许多国家实施，降低了许多患者被诊断出患有这些疾病的年龄。严重联合免疫缺陷症的早期诊断使婴儿在面临潜在威胁生命的感染之前，可以进行干细胞移植或基因治疗等确定性治疗。虽然干细胞移植仍然存在重大风险，但近几十年来获得的知识使毒性和移植物抗宿主病更少，从而提高了生存率。
