Lawrence Monica G, Rider Nicholas L, Cunningham-Rundles Charlotte, Poli M Cecilia
University of Virginia School of Medicine, Department of Medicine, Division of Asthma, Allergy and Immunology, Charlottesville VA.
Liberty University College of Osteopathic Medicine, Division of Clinical Informatics, Lynchburg VA; Collaborative Health Partners, Department of Allergy-Immunology, Lynchburg VA.
J Allergy Clin Immunol Pract. 2023 Oct 28. doi: 10.1016/j.jaip.2023.10.041.
Inborn errors of immunity represent a rapidly expanding group of genetic disorders of the immune system. Significant advances have been made in recent years in diagnosis, including using genetic testing and newborn screening; treatment, including precision therapies, gene therapy and hematopoietic stem cell transplant; and development of patient registries to inform prevalence, understand morbidity of these disorders and guide the development of clinical trials. However, significant disparities due to age, race, ethnicity, socioeconomic status, or geographic location exist in all aspects of care of patients with inborn errors of immunity, beginning with delays in diagnosis and further compounded by impaired access to specialist care and treatment, leading to a notable impact on outcomes including morbidity and mortality. Addressing and correcting these disparities will require coordinated, deliberate and prolonged effort. Proposed strategies to improve equity at different levels include public health measures such as implementing universal newborn screening, supporting expanded health insurance coverage for diagnostic testing and treatment, improving access to novel therapeutics in low and middle income countries and developing artificial intelligence / machine learning tools to reduce delays in diagnosis, particularly in rural or less developed areas where access to specialist care is limited.
遗传性免疫缺陷病是免疫系统遗传性疾病中迅速扩大的一类疾病。近年来，在诊断方面取得了重大进展，包括使用基因检测和新生儿筛查；治疗方面，包括精准治疗、基因治疗和造血干细胞移植；以及建立患者登记系统以了解这些疾病的患病率、认识其发病率并指导临床试验的开展。然而，在遗传性免疫缺陷病患者护理的各个方面，由于年龄、种族、民族、社会经济地位或地理位置的不同，存在着显著差异，从诊断延迟开始，进而因获得专科护理和治疗的机会受损而进一步加剧，对包括发病率和死亡率在内的治疗结果产生显著影响。解决和纠正这些差异需要协调一致、深思熟虑和长期的努力。在不同层面改善公平性的拟议战略包括公共卫生措施，如实施普遍的新生儿筛查、支持扩大诊断检测和治疗的医疗保险覆盖范围、改善低收入和中等收入国家获得新型治疗方法的机会，以及开发人工智能/机器学习工具以减少诊断延迟，特别是在获得专科护理机会有限的农村或欠发达地区。
