UNASSIGNED:J项目(JP)医师教育和临床研究合作计划始于2004年,目前包括32个主要在东欧和中欧(ECE)的国家。直到2021年底,JP组织了344次以先天免疫错误(IEI)为重点的会议,以提高认识并促进IEI患者的诊断和治疗。
未经批准:在这项研究中,会议概况和主要诊断和治疗参数进行了研究。JP中心负责人报告了来自30个国家的患者数据,代表总人口506567565。两个国家报告了JP中心的患者(Konya,土耳其和开罗大学,埃及)。诊断标准基于IUIS专家委员会对IEI的2020年分类更新。JP会议的数量从2004年和2005年的每年6次增加到2020年和2021年的44次和63次。每个国家的累计会议次数从1次到59次不等,部分但不完全反映了各自国家的人口。总之,据报道,24,879名患者的平均患病率为4.9。大多数患者主要是抗体缺乏(46,32%),其次是合并免疫缺陷的患者(14.3%)。骨髓衰竭和IEI表型的患者百分比均小于1。13个国家的患者数量明显高于向ESID登记处报告的患者数量。向7,572名患者(5,693名静脉内)提供了免疫球蛋白(IgG)替代,1,480名患者接受了造血干细胞治疗(HSCT)。搜索基本诊断参数显示,免疫化学和流式细胞术在27和28个国家的可用性,分别,在21个和18个国家/地区提供了靶向基因测序和新一代测序。IEI中心和该领域的专家数量分别为260和690。我们发现IEI中心的数量与静脉注射IgG(IVIG)治疗的患者之间存在高度相关性(相关系数,cc,0,916)和接受HSCT治疗的患者(cc,0,905).当将专家人数与接受HSCT治疗的专家人数进行比较时,发现了类似的相关性。然而,皮下Ig(SCIG)治疗的患者人数与专家人数(cc,4489),并且在SCIG的中心数量和患者数量之间没有发现相关性(cc,0,174).
UNASSIGNED:1)这是第一项研究,描述了JP国家IEI护理的主要诊断和治疗参数;2)数据表明JP对ECE中IEI护理的发展产生了巨大影响;3)我们的数据有助于确定各个国家/地区JP活动的主要未来目标;4)我们建议IEI中心的数量和IEI专家在这种脆弱的诊断研究中发挥着更多的作用疾病特异性患病率,JP国家的新生儿筛查和专业合作。
The J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and Central Europe (ECE). Until the end of 2021, 344 inborn errors of immunity (IEI)-focused meetings were organized by the JP to raise awareness and facilitate the diagnosis and treatment of patients with IEI.
In this study, meeting profiles and major diagnostic and treatment parameters were studied. JP center leaders reported patients\' data from 30 countries representing a total population of 506 567 565. Two countries reported patients from JP centers (Konya, Turkey and Cairo University, Egypt). Diagnostic criteria were based on the 2020 update of classification by the IUIS Expert Committee on IEI. The number of JP meetings increased from 6 per year in 2004 and 2005 to 44 and 63 in 2020 and 2021, respectively. The cumulative number of meetings per country varied from 1 to 59 in various countries reflecting partly but not entirely the population of the respective countries. Altogether, 24,879 patients were reported giving an average prevalence of 4.9. Most of the patients had predominantly antibody deficiency (46,32%) followed by patients with combined
immunodeficiencies (14.3%). The percentages of patients with bone marrow failure and phenocopies of IEI were less than 1 each. The number of patients was remarkably higher that those reported to the ESID Registry in 13 countries. Immunoglobulin (IgG) substitution was provided to 7,572 patients (5,693 intravenously) and 1,480 patients received hematopoietic stem cell therapy (HSCT). Searching for basic diagnostic parameters revealed the availability of immunochemistry and flow cytometry in 27 and 28 countries, respectively, and targeted gene sequencing and new generation sequencing was available in 21 and 18 countries. The number of IEI centers and experts in the field were 260 and 690, respectively. We found high correlation between the number of IEI centers and patients treated with intravenous IgG (IVIG) (correlation coefficient, cc, 0,916) and with those who were treated with HSCT (cc, 0,905). Similar correlation was found when the number of experts was compared with those treated with HSCT. However, the number of patients treated with subcutaneous Ig (SCIG) only slightly correlated with the number of experts (cc, 0,489) and no correlation was found between the number of centers and patients on SCIG (cc, 0,174).
1) this is the first study describing major diagnostic and treatment parameters of IEI care in countries of the JP; 2) the data suggest that the JP had tremendous impact on the development of IEI care in ECE; 3) our data help to define major future targets of JP activity in various countries; 4) we suggest that the number of IEI centers and IEI experts closely correlate to the most important treatment parameters; 5) we propose that specialist education among medical professionals plays pivotal role in increasing levels of diagnostics and adequate care of this vulnerable and still highly neglected patient population; 6) this study also provides the basis for further analysis of more specific aspects of IEI care including genetic diagnostics, disease specific prevalence, newborn screening and professional collaboration in JP countries.