新生儿严重联合免疫缺陷筛查发现冠状蛋白1A缺乏

IF 0.3 Q4 IMMUNOLOGY
Y. Schejter, Amarilla B. Mandola, B. Reid
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引用次数: 1

摘要

引言:冠状病毒1A属于肌动蛋白调节蛋白的大家族,在T细胞稳态中发挥作用。在巨噬细胞、NK细胞和神经元细胞中也观察到了coronin 1A的作用。到目前为止,在相对较少的联合免疫缺陷患者中描述了coronin 1A缺乏症。目的:研究新生儿严重联合免疫缺陷筛查发现免疫缺陷的分子和遗传基础。方法:根据REB批准的方案收集患者数据。进行免疫检查,包括T和B细胞增殖反应以及免疫球蛋白的血清浓度。还利用了下一代测序技术和细胞分析。结果:患者出现T细胞淋巴细胞减少、CD4+CD45Ra+细胞减少和低丙种球蛋白血症。独特的是,她还患有持续的严重中性粒细胞减少症。全外显子组测序和Sanger证实在coronin 1A中发现了一个新的纯合突变。结论:以T细胞受体切除环为基础的新生儿筛查可在出生后发现冠状病毒1A缺乏症。新颖性声明:我们在这里报告了一名患有新的coronin 1A突变的患者,该患者在新生儿筛查中发现T细胞受体切除环水平低,中性粒细胞减少症,这是这种情况下的一个独特发现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency
Introduction: Coronin 1A belongs to a large family of actin regulatory proteins with a role in T cell homeostasis. A role for coronin 1A was also observed in macrophages, NK, and neuronal cells. To date, coronin 1A deficiency has been described in relatively few patients with combined immunodeficiency. Aim: We studied here the molecular and genetic basis of immunodeficiency detected by newborn screening for severe combined immunodeficiency. Methods: Patient data was collected in accordance with REB approved protocols. Immune work up, including T and B cell proliferative responses and serum concentrations of immunoglobulins, was performed. Next generation sequencing techniques and cellular analyses were also utilized. Results: The patient presented with T cell lymphopenia, reduction in CD4+CD45Ra+ cells and hypogammaglobulinemia. Uniquely, she also had persistent severe neutropenia. Whole exome sequencing and Sanger confirmation revealed a novel homozygous mutation in coronin 1A. Conclusion: Coronin 1A deficiency can be detected after birth by T cell receptor excision circle-based newborn screening. Statement of novelty: We report here a patient with a novel mutation in coronin 1A, identified during newborn screening with low T cell receptor excision circle levels and neutropenia, which is a unique finding in this condition.
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