Universidad San Francisco de Quito, Colegio de Ciencias de la Salud-Hospital de los Valles, Quito, Ecuador.
Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, Houston, Texas, USA.
Curr Opin Pediatr. 2019 Dec;31(6):835-842. doi: 10.1097/MOP.0000000000000834.
Even with the evident improvement in knowledge about clinical and molecular aspects and the technology used to diagnose primary immunodeficiency diseases (PIDs), there is still a significant delay in recognition of these diseases in the developing world, specifically in Latin America. In this review, the goal is to outline the challenges that need to overcome for the diagnosis of PIDs and the optimization of resources available based on our experience.
We describe the advances achieved in the past decade in Latin America in terms of recognition of PIDs, as well as the need for improvement. We outline the need for continued medical education, the lack of resources for laboratory testing, and how genetic testing through next-generation sequencing (that is becoming a day-to-day tool) can be achieved in the developing world.
We aim to gather information about the limitations and challenges for the diagnosis of PIDs in a low-resource environment and the opportunities to benefit from the available advanced tools for diagnosis.
目的综述：尽管人们对原发性免疫缺陷病（PID）的临床和分子方面以及用于诊断 PID 的技术有了明显的认识，但在发展中国家，特别是拉丁美洲，这些疾病的诊断仍存在明显的延迟。在本次综述中，我们旨在概述在诊断 PID 和优化现有资源方面需要克服的挑战，这是基于我们的经验。
最新发现：我们描述了过去十年拉丁美洲在 PID 认识方面取得的进展，以及需要改进的地方。我们概述了持续医学教育的必要性、实验室检测资源的缺乏，以及发展中国家如何实现通过下一代测序进行基因检测（这正在成为一种日常工具）。
总结：我们的目的是收集有关在资源匮乏环境下诊断 PID 的限制和挑战的信息，并探讨利用现有先进诊断工具的机会。
