Children's Hospital of Colorado and University of Colorado, 13123 E 16(th) Ave, Aurora, CO, USA.
J Immunol Methods. 2022 Oct;509:113342. doi: 10.1016/j.jim.2022.113342. Epub 2022 Aug 24.
Common variable immunodeficiency is a heterogeneous condition characterized by B cell dysfunction with reduced serum immunoglobulin levels and a highly variable spectrum of clinical manifestations ranging from recurrent infections to autoimmune disease. The diagnosis of CVID is often challenging due to the diverse clinical presentation of patients and the existence of multiple diagnostic criteria without a universally adopted consensus. Laboratory evaluation to assist with diagnosis currently includes serum immunoglobulin testing, immunophenotyping, assessment of vaccine response, and genetic testing. Additional emerging techniques include investigation of the B cell repertoire and the use of machine learning algorithms. Advances in our understanding of common variable immunodeficiency will ultimately contribute to earlier diagnosis and novel interventions with the goal of improving prognosis for these patients.
普通变异性免疫缺陷是一种异质性疾病,其特征是 B 细胞功能障碍,血清免疫球蛋白水平降低,临床表现多种多样,从反复感染到自身免疫性疾病不等。由于患者临床表现多样,且存在多种诊断标准而没有普遍接受的共识,因此 CVID 的诊断常常具有挑战性。目前,有助于诊断的实验室评估包括血清免疫球蛋白检测、免疫表型分析、疫苗反应评估和基因检测。其他新兴技术包括 B 细胞库的研究和机器学习算法的应用。我们对普通变异性免疫缺陷的理解的进步最终将有助于更早的诊断和新的干预措施,以改善这些患者的预后。