Infill Healthcare Communication, Königswinter, Germany.
Institute of Medical Immunology, Institute of Occupational Medicine, Charité - University Medicine Berlin, corporate member of Freie University, Berlin and Humboldt-University of Berlin, Berlin, Germany.
Front Immunol. 2023 Oct 5;14:1279652. doi: 10.3389/fimmu.2023.1279652. eCollection 2023.
The diagnosis and treatment of inborn errors of immunity (IEI) is a major challenge as the individual conditions are rare and often characterized by a variety of symptoms, which are often non disease-specific. Ideally, patients are treated in dedicated centers by physicians who specialize in the management of primary immune disorders. In this study, we used the example of Activated PI3Kδ syndrome (APDS), a rare IEI with an estimated prevalence of 1:1,000,000. We conducted surveys by questionnaire and interviewed physicians at different IEI centers in Germany.
We queried structural aspects of IEI care in Germany, diagnostic procedures in IEI care (including molecular diagnostics), distribution of APDS patients, APDS symptoms and severity, treatment algorithms in APDS, the role of stem cell transplantation and targeted therapies in IEI with focus on APDS. We were especially interested in how genetic diagnostics may influence treatment decisions, e.g. with regard to targeted therapies.
RESULTS/DISCUSSION: Most centers care for both pediatric and adult patients. A total of 28 APDS patients are currently being treated at the centers we surveyed. Patient journeys vary considerably, as does severity of disease. Genetic diagnosis continues to gain importance - whole genome sequencing is likely to become routine in IEI in the next few years. According to the experts interviewed, stem cell transplantation and - with new molecules being approved - targeted therapies, will gain in importance for the treatment of APDS and IEI in general.
先天性免疫缺陷（IEI）的诊断和治疗是一个重大挑战，因为个体疾病罕见，且通常表现为多种症状，这些症状往往是非特异性的。理想情况下，患者应由专门治疗原发性免疫紊乱的医生在专门的中心进行治疗。在这项研究中，我们以激活的 PI3Kδ 综合征（APDS）为例，这是一种罕见的 IEI，估计患病率为 1:100 万。我们通过问卷进行了调查，并采访了德国不同 IEI 中心的医生。
我们查询了德国 IEI 护理的结构方面、IEI 护理中的诊断程序（包括分子诊断）、APDS 患者的分布、APDS 症状和严重程度、APDS 治疗算法、干细胞移植和靶向治疗在 IEI 中的作用，重点关注 APDS。我们特别关注遗传诊断如何影响治疗决策，例如针对靶向治疗。
结果/讨论：大多数中心都照顾儿科和成年患者。我们调查的中心目前正在治疗 28 名 APDS 患者。患者的就诊路径差异很大，疾病的严重程度也不同。基因诊断的重要性不断增加——全基因组测序可能在未来几年内成为 IEI 的常规诊断方法。根据采访的专家，干细胞移植和——随着新分子的批准——靶向治疗将在 APDS 和一般 IEI 的治疗中变得更加重要。
