Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Via S. Pansini, 5-80131, Naples, Italy.
Pediatric Immunopathology and Allergology Unit, Policlinico Tor Vergata, University of Tor Vergata, Rome, Italy.
J Clin Immunol. 2024 Jan 17;44(2):47. doi: 10.1007/s10875-023-01644-y.
Inborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases. In some cases, patients present with complex or atypical phenotypes, not fulfilling the accepted diagnostic criteria for IEI and, thus, at high risk of misdiagnosis or diagnostic delay. This study aimed to validate a platform that, through the opinion of immunologist experts, improves the diagnostic process and the level of care of patients with atypical/complex IEI.
Here, we describe the functioning of the IEI-Virtual Consultation System (VCS), an innovative platform created by the Italian Immunodeficiency Network (IPINet).
In the validation phase, from January 2020 to June 2021, 68 cases were entered on the IEI-VCS platform. A final diagnosis was achieved in 35/68 cases (51%, 95% CI 38.7 to 64.2). In 22 out of 35 solved cases, the diagnosis was confirmed by genetic analysis. In 3/35 cases, a diagnosis of secondary immunodeficiency was made. In the remaining 10 cases, an unequivocal clinical and immunological diagnosis was obtained, even though not substantiated by genetic analysis.
From our preliminary study, the VCS represents an innovative and useful system to improve the diagnostic process of patients with complex unsolved IEI disorders, with benefits both in terms of reduction of time of diagnosis and access to the required therapies. These results may help the functioning of other international platforms for the management of complex cases.
先天性免疫缺陷（IEI）是一组由遗传因素导致的罕见疾病。部分患者的临床表现较为复杂或不典型，无法满足 IEI 的既定诊断标准，因此存在较高的误诊或漏诊风险。本研究旨在通过免疫学家专家的意见，验证一个平台，以改善不典型/复杂 IEI 患者的诊断流程和护理水平。
本研究描述了意大利免疫缺陷网络（IPINet）创建的创新平台——IEI 虚拟咨询系统（VCS）的工作原理。
在验证阶段（2020 年 1 月至 2021 年 6 月），有 68 例患者在 IEI-VCS 平台上进行了登记。在 68 例患者中，最终诊断出 35 例（51%，95%置信区间为 38.7%至 64.2%）。在 35 例确诊患者中，22 例通过基因分析得到了确诊。在 35 例确诊患者中，有 3 例被诊断为继发性免疫缺陷。在其余 10 例患者中，尽管未通过基因分析证实，但仍获得了明确的临床和免疫学诊断。
本初步研究表明，VCS 是一种创新且有用的系统，可改善复杂未确诊 IEI 患者的诊断流程，有助于缩短诊断时间并获得所需治疗。这些结果可能有助于其他复杂病例管理国际平台的运作。
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