Chong-Neto Herberto José, Radwan Nesrine, Condino-Neto Antônio, Rosário Filho Nelson Augusto, Ortega-Martell José Antonio, El-Sayed Zeinab A
Division of Allergy and Immunology, Complexo Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil.
Pediatric Allergy, Immunology and Rheumatology Unit, Children's Hospital, Ain Shams University, Cairo, Egypt.
World Allergy Organ J. 2024 Jun 13;17(6):100920. doi: 10.1016/j.waojou.2024.100920. eCollection 2024 Jun.
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.
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.
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 ( = 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.
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.
一些国家已实施新生儿筛查（NBS）以早期发现先天性免疫缺陷病（IEI）。本研究的目的是核实全球范围内NBS的实施情况并确定实施障碍。
世界过敏组织（WAO）免疫缺陷病委员会编制了一份问卷，包含17个问题，涉及医师工作场所中针对IEI的NBS、NBS检测类型、阻碍NBS实施的问题、IEI治疗的报销情况、国家IEI登记处的存在情况、转诊中心、分子诊断、造血干细胞移植中心、基因治疗以及免疫球蛋白替代治疗。该调查问卷于2021年9月至10月期间，以谷歌表单（Google Form™）的形式每周通过电子邮件发送给与WAO及全球主要免疫学会相关的医生和其他人员，供其填写。
共完成229份问卷，其中216份（94.3%）由医师完成。176名（76.8%）医师既是过敏症专科医生又是免疫学家。对于“你工作的国家是否有针对IEI的NBS？”这一问题，过敏症专科医生/免疫学家与非过敏症专科医生/非免疫学家之间的一致性良好（κ = 0.64：95%置信区间0.55 - 0.69）。98名（42.8%）参与者来自拉丁美洲，35名（15.3%）来自北美洲，29名（12.6%）来自欧洲，18名（7.9%）来自非洲，44名（19.2%）来自亚洲，5名（2.2%）来自大洋洲。超过一半的参与者（n = 124，54.2%）经常治疗IEI患者，其次是偶尔治疗（n = 77，33.6%），或从未治疗过（n = 28，12.2%）。在受访者中，14.8%报告其国家开展了针对IEI的NBS，而42.2%报告其国家未开展。T细胞受体切除环是一些国家最广泛使用的技术，75名（59.9%）用于IEI的NBS诊断，其次是与κ链缺失重组切除环联合使用。只有13名参与者（10.3%）在各自国家进行了新生儿外显子筛查。资金和技术问题是实施IEI的NBS的主要障碍。
这项试点研究表明，尽管存在免疫转诊中心以及造血干细胞移植和静脉注射免疫球蛋白替代治疗，但很少有国家实施针对IEI的NBS。研究结果突出了阻碍NBS广泛应用的困难，主要是资金和技术方面的困难。在国际层面分享经验、技术和资源有助于克服这些困难。
