Section of Pulmonary, Allergy, Sleep & Critical Care Medicine, Department of Medicine, Boston University School of Medicine, Boston Medical Center, Boston, Massachusetts.
Section of Pulmonary, Allergy, Sleep & Critical Care Medicine, Department of Medicine, Boston University School of Medicine, Boston Medical Center, Boston, Massachusetts.
Ann Allergy Asthma Immunol. 2021 Jul;127(1):19-27. doi: 10.1016/j.anai.2021.03.005. Epub 2021 Mar 11.
To summarize the current understanding of diagnostic and postdiagnostic evaluation of common variable immunodeficiency (CVID).
PubMed Central database.
Original research articles and review articles from 2015 to 2020 including seminal articles that shaped the diagnostic and postdiagnostic evaluation of CVID were incorporated. This work focuses on initial diagnosis of CVID, genetic evaluations, and postdiagnostic assessment of respiratory, gastrointestinal, and hepatobiliary diseases including spleen and lymph node enlargement.
CVID presents not only with frequent infections but also with noninfectious complications such as autoimmunity, gastrointestinal disease, chronic lung disease, granulomas, liver disease, lymphoid hyperplasia, splenomegaly, or malignancy. The risk of morbidity and mortality is higher in patients with CVID and noninfectious complications. Detailed diagnostic approaches, which may incorporate genetic testing, can aid characterization of individual CVID cases and shape treatment in some instances. Moreover, continued evaluation after CVID diagnosis is key to optimal management of this complex disorder. These postdiagnostic evaluations include pulmonary function testing, radiologic studies, and laboratory evaluations that may be conducted at frequencies determined by disease activity.
Although the diagnosis can be achieved similarly in all patients with CVID, those with noninfectious complications have distinct concerns during clinical evaluation. State-of-the-art workup of CVID with noninfectious complications typically includes genetic analysis, which may shape precision therapy, and thoughtful application of postdiagnostic tests that monitor the presence and progression of disease in the myriad of tissues that may be affected. Even with recent advancements, knowledge gaps in diagnosis, prognosis, and treatment of CVID persist, and continued research efforts are needed.
总结普通变异性免疫缺陷（CVID）的诊断和诊断后评估的现状。
PubMed Central 数据库。
纳入了 2015 年至 2020 年的原始研究文章和综述文章，包括对 CVID 的诊断和诊断后评估产生重要影响的开创性文章。本研究主要关注 CVID 的初始诊断、遗传评估以及呼吸道、胃肠道和肝胆疾病（包括脾和淋巴结肿大）的诊断后评估。
CVID 不仅表现为频繁感染，还伴有自身免疫、胃肠道疾病、慢性肺部疾病、肉芽肿、肝脏疾病、淋巴组织增生、脾肿大或恶性肿瘤等非传染性并发症。患有 CVID 和非传染性并发症的患者发病率和死亡率更高。详细的诊断方法，可能包括基因检测，可以帮助确定个别 CVID 病例的特征，并在某些情况下指导治疗。此外，CVID 诊断后持续评估是优化这种复杂疾病管理的关键。这些诊断后评估包括肺功能测试、影像学研究和实验室评估，这些评估的频率可能取决于疾病活动度。
虽然所有 CVID 患者的诊断方法可能相似，但有非传染性并发症的患者在临床评估中存在不同的关注点。CVID 伴非传染性并发症的最新全面检查通常包括基因分析，这可能会影响精准治疗，并慎重应用诊断后检测，以监测可能受影响的众多组织中疾病的存在和进展。尽管取得了近期进展，但在 CVID 的诊断、预后和治疗方面仍存在知识空白，需要持续开展研究工作。
