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Abstract：
Primary immunodeficiencies (PIDs) are rare, undiagnosed and potentially fatal diseases. Clinical manifestations of PID can be fatal or leave sequelae that worsen the quality of life of patients. Traditionally, the treatment of PIDs has been largely supportive, with the exception of bone marrow transplantation and, more recently, gene therapy. The discovering of new affected pathways, the development of new molecules and biologics, and the increasing understanding of the molecular basis of these disorders have created opportunities in PIDs therapy. This document aims to review current knowledge and to provide recommendations about the diagnosis and clinical management of adults and children with PIDs based on the available scientific evidence taking in to account current practice and future challenges. A systematic review was conducted, and evidence levels based on the available literature are given for each recommendation where available.
摘要：
原发性免疫缺陷（PID）很少见，未诊断和潜在致命的疾病。PID的临床表现可能是致命的或留下后遗症，从而恶化患者的生活质量。传统上,PID的治疗在很大程度上是支持性的，除了骨髓移植和,最近,基因治疗。发现新的受影响的途径，新分子和生物制品的发展，对这些疾病的分子基础的日益理解为PIDS治疗创造了机会。本文件旨在回顾当前的知识，并根据现有的科学证据提供有关成人和儿童患有PID的诊断和临床管理的建议，以考虑当前的实践和未来的挑战。进行了系统的审查，和证据水平基于现有的文献给出了每个建议。
