Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies
Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies
复制标题
DOI：
10.1016/j.jaip.2020.05.008
复制
发表时间：
2020-11-01
影响因子：
9.4
通讯作者：
Neth, Olaf
中科院分区：
文献类型：
--
作者：
Cordero, Elisa;Goycochea-Valdivia, Walter;Neth, Olaf
原发性免疫缺陷（pid）是一种罕见的、未确诊的、潜在致命的疾病。PID的临床表现可能是致命的或留下的后遗症，使患者的生活质量恶化。传统上，除了骨髓移植和最近的基因治疗外，pid的治疗在很大程度上是支持性的。新的受影响途径的发现，新分子和生物制剂的开发，以及对这些疾病分子基础的日益了解，为pid治疗创造了机会。本文件旨在回顾目前的知识，并根据现有的科学证据，考虑到当前的实践和未来的挑战，提供有关成人和儿童pid的诊断和临床管理的建议。进行了系统评价，并根据现有文献给出了每项建议的证据水平。(C) 2020年美国过敏、哮喘与免疫学学会；西班牙微生物学临床感染学会[Elsevier Inc./Elsevier Espana出版]。版权所有。
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. (C) 2020 American Academy of Allergy, Asthma & Immunology; Sociedad Espanola de Enfermedades Infecciosas y Microbiologia Clinica [Published by Elsevier Inc./Elsevier Espana]. All rights reserved.