Pneumology Department, Hospital Clínico Universitario, Santiago de Compostela, Spain.
Pneumology Interdisciplinary Research Group, Santiago de Compostela Health Research Institute (IDIS), Santiago de Compostela, Spain.
Can Respir J. 2022 Apr 10;2022:7140919. doi: 10.1155/2022/7140919. eCollection 2022.
Primary immunodeficiencies are a group of conditions characterized by developmental or functional alterations in the immune system caused by hereditary genetic defects. Primary immunodeficiencies may affect either the innate or the adaptive (humoral and cellular) immune system. Pulmonary complications in primary humoral deficiencies are frequent and varied and are associated with high morbidity and mortality rates. The types of complications include bronchiectasis secondary to recurrent respiratory infections and interstitial pulmonary involvement, which can be associated with autoimmune cytopenias, lymphoproliferation, and a range of immunological manifestations. Early detection is key to timely management. Immunoglobulin replacement therapy reduces the severity of disease, the frequency of exacerbations, and hospital admissions in some primary humoral deficiencies. Therefore, the presence of pulmonary disease with concomitant infectious and/or autoimmune complications should raise suspicion of primary humoral deficiencies and warrants a request for immunoglobulin determination in blood. Once diagnosis is confirmed; early immunoglobulin replacement therapy will improve the course of the disease. Further studies are needed to better understand the pathogenesis of pulmonary disease related to primary humoral deficiencies and favor the development of targeted therapies that improve the prognosis of patients.
原发性免疫缺陷是一组由遗传性遗传缺陷引起的免疫系统发育或功能改变的疾病。原发性免疫缺陷可影响固有免疫或适应性（体液和细胞）免疫系统。原发性体液免疫缺陷的肺部并发症频繁且多样，与高发病率和死亡率相关。并发症的类型包括继发于反复呼吸道感染的支气管扩张和间质性肺受累，可伴有自身免疫性血细胞减少症、淋巴增生和一系列免疫表现。早期发现是及时治疗的关键。在某些原发性体液免疫缺陷中，免疫球蛋白替代疗法可降低疾病严重程度、加重频率和住院率。因此，伴有感染和/或自身免疫性并发症的肺部疾病应怀疑为原发性体液免疫缺陷，并应要求检测血液中的免疫球蛋白。一旦确诊，早期免疫球蛋白替代疗法将改善疾病进程。需要进一步研究以更好地了解与原发性体液免疫缺陷相关的肺部疾病的发病机制，并有利于开发靶向治疗方法，改善患者的预后。
