■用于早期发现先天性免疫错误(IEI)的新生儿筛查(NBS)已在一些国家/地区实施。这项研究的目的是验证情况并确定在全球范围内实施NBS的障碍。
■世界变态反应组织(WAO)的天生免疫错误委员会编制了一份问卷,其中有17个关于医生工作场所IEI的NBS的问题,NBS测试类型,阻碍国家统计局实施的问题,IEI治疗的报销,存在国家IEI注册表,转诊中心,分子诊断,造血干细胞移植中心,基因治疗,免疫球蛋白替代疗法.该调查每周通过电子邮件发送给医生和与WAO和全球主要免疫学协会相关的其他人,作为GoogleForm™,将于2021年9月和10月完成。
■完成了二百二十九份问卷,其中216名(94.3%)由医生完成。一百七十六(76.8%)的医生都是变态反应学家和免疫学家。变态反应学家/免疫学家和非变态反应学家/非免疫学家之间的协议“在你工作的国家是否有IEI的NBS?”很好(κ=0,64:95%CI0.55-0.69)。98名(42.8%)参与者来自拉丁美洲,35(15.3%)来自北美,29(12.6%)来自欧洲,18(7.9%)来自非洲,44(19.2%)来自亚洲,大洋洲5人(2.2%)。超过一半的参与者(n=124,54.2%)定期治疗IEI患者,其次是偶尔治疗(n=77,33.6%),或从不(n=28,12.2%)。在受访者中,14.8%的人报告说,他们的国家对IEI进行了NBS,而42.2%的人报告他们的国家没有。T细胞受体切除环是一些国家使用最广泛的技术,75(59.9%)用于IEI的NBS诊断,然后结合使用κ删除-重组切除圈。只有13名参与者(10.3%)在各自国家接受了新生儿外显子筛查。财务和技术问题是实施IEI国家统计局的主要障碍之一。
■这项试点研究表明,很少有国家为IEI实施NBS,尽管有免疫学转诊中心,造血干细胞移植和静脉注射免疫球蛋白替代疗法。调查结果突出了困难,主要是财务和技术,阻碍了国家统计局的广泛应用。分享经验,技术,国际上的资源可以帮助克服这些困难。
UNASSIGNED: Newborn screening (NBS) for the early detection of inborn errors of immunity (IEI) has been implemented in a few countries. The objective of this study was to verify the situation and define obstacles to the implementation of NBS worldwide.
UNASSIGNED: A questionnaire was developed by the Inborn Errors of Immunity Committee of the World Allergy Organization (WAO) with 17 questions regarding NBS for IEI in the physician\'s workplace, NBS test type, problems hindering NBS implementation, reimbursement for IEI therapy, presence of a national IEI registry, referral centers, molecular diagnosis, hematopoietic stem cell transplantation centers, gene therapy, and immunoglobulin replacement therapy. The survey was sent by email once a week to doctors and others associated with WAO and the main immunology societies worldwide as a Google Form™ to be completed during September and October 2021.
UNASSIGNED: Two hundred twenty-nine questionnaires were completed, of which 216 (94.3%) were completed by physicians. One hundred seventy-six (76.8%) physicians were both allergists and immunologists. The agreement between allergists/immunologists and non-allergists/non-immunologists for the question \"Is there NBS for IEI in the country you work in?\" was good (κ = 0,64: 95% CI 0.55-0.69). Ninety-eight (42.8%) participants were from Latin America, 35 (15.3%) from North America, 29 (12.6%) from Europe, 18 (7.9%) from Africa, 44 (19.2%) from Asia, and 5 (2.2%) from Oceania. More than half the participants (n = 124, 54.2%) regularly treated patients with IEI, followed by occasional treatment (n = 77, 33.6%), or never (n = 28, 12.2%). Of the respondents, 14.8% reported that their countries performed NBS for IEI, whereas 42.2% reported their countries did not. T-cell receptor excision circles was the most widely used technique in some countries, with 75 (59.9%) for the diagnosis of NBS for IEI, followed by combined use with kappa deleting-recombination excision circles. Only 13 participants (10.3%) underwent neonatal exon screening in their respective countries. Financial and technical issues were among the major obstacles to the implementation of NBS for IEI.
UNASSIGNED: This pilot study showed that few countries have implemented NBS for IEI, despite the presence of immunology referral centers and the availability of hematopoietic stem cell transplantation and intravenous immunoglobulin replacement therapy. The findings highlight the difficulties, mainly financial and technical, hindering wide application of NBS. Sharing experiences, technologies, and resources at the international level can help overcome these difficulties.