Department of Medicine - DIMED, University of Padova , Padova , Italy.
Internal Medicine I, Ca' Foncello Hospital , Treviso , Italy.
Expert Rev Respir Med. 2019 Sep;13(9):823-838. doi: 10.1080/17476348.2019.1641085. Epub 2019 Jul 30.
: Human primary immunodeficiency diseases (PIDs) include a broad spectrum of more than 350 disorders, involving different branches of the immune system and classified as 'rare diseases.' Predominantly antibody deficiencies (PADs) represent more than half of the PIDs diagnosed in Europe and are often diagnosed in the adulthood. : Although PAD could first present with autoimmune or neoplastic features, respiratory infections are frequent and respiratory disease represents a relevant cause of morbidity and mortality. Pulmonary complications may be classified as infection-related (acute and chronic), immune-mediated, and neoplastic. : At present, no consensus guidelines are available on how to monitor and manage lung complications in PAD patients. In this review, we will discuss the available diagnostic, prognostic and therapeutic instruments and we will suggest an appropriate and evidence-based approach to lung diseases in primary antibody deficiencies. We will also highlight the possible role of promising new tools and strategies in the management of pulmonary complications. However, future studies are needed to reduce of diagnostic delay of PAD and to better understand lung diseases mechanisms, with the final aim to ameliorate therapeutic options that will have a strong impact on Quality of Life and long-term prognosis of PAD patients.
原发性免疫缺陷病（PID）包括 350 多种疾病，涉及免疫系统的不同分支，被归类为“罕见病”。在欧洲，以抗体缺陷为主的原发性免疫缺陷病（PAD）占已诊断 PID 的一半以上，且常发生于成年期。尽管 PAD 最初可能表现出自免疫性或肿瘤性特征，但呼吸道感染较为常见，呼吸道疾病是发病率和死亡率的重要原因。肺部并发症可分为感染相关（急性和慢性）、免疫介导和肿瘤性。目前，尚无关于如何监测和管理 PAD 患者肺部并发症的共识指南。在这篇综述中，我们将讨论现有的诊断、预后和治疗工具，并提出一种针对原发性抗体缺陷相关肺部疾病的合理、基于证据的方法。我们还将强调一些有前途的新工具和策略在管理肺部并发症方面的可能作用。然而，需要进一步研究来减少 PAD 的诊断延迟，更好地了解肺部疾病的发病机制，最终目标是改善治疗方案，这将对 PAD 患者的生活质量和长期预后产生重大影响。
