CD5 b细胞显性原发性免疫缺陷:MAGT1缺陷谱的一部分。

0 OTORHINOLARYNGOLOGY
Marija J Rowane, Benjamin C Stewart-Bates, Rayna J Doll, Howard J Meyerson, John S Venglarcik, Meghan Callahan, Lauren Fill, Remie Saab, Hans D Ochs, Robert W Hostoffer
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引用次数: 0

摘要

背景:选择性抗多糖抗体缺乏症(SPAD)伴CD5 b细胞优势和自身免疫现象,在1999年由Antall等人首次报道的男性队列中被发现。表型相似和基因典型相同的x连锁免疫缺陷伴镁缺陷、爱泼斯坦-巴尔病毒感染和肿瘤(XMEN)病在2011年被定义为一种新型原发性免疫缺陷(PID)。最近对镁转运蛋白1 (MAGT1)基因突变的研究表明,糖基化缺陷比“XMEN”标题病理更能导致表型变异。更新的标题是“x -连锁MAGT1缺陷与ebv感染易感性增加和n -连锁糖基化缺陷”,于2020年提出。目的:为了更准确地反映患者群体,一种前瞻性的分类更新可能会考虑导致表型差异的MAGT1糖生物学错误,以及CD5 b细胞优势的遗传前检测时代报告。方法:来自Antall等人的患者1在28岁时出现,对其5岁时诊断的CD5/CD19 b细胞优势进行进一步的免疫学评估。设计:通过流式细胞术和下一代测序进行免疫再评估。结果:流式细胞术b细胞表型显示持续性CD5+CD19+(93%)。流式细胞术直方图定量分析了还原激活因子CD16+CD56+自然杀伤因子和CD8+ t细胞受体2组成员D (NKG2D)糖蛋白的表达。在MAGT1基因中发现了c.923-1_934缺失功能缺失突变。结论:我们认为基于CD5 b细胞优势的新型PID XMEN早在十多年前就被发现并报道为基于MAGT1突变的CD5+ PID。我们鼓励考虑将这些标签和最近的发现结合起来,以提供最准确的疾病分类。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

CD5 B-Cell Predominant Primary Immunodeficiency: Part of the Spectrum of <i>MAGT1</i> Deficiency.

CD5 B-Cell Predominant Primary Immunodeficiency: Part of the Spectrum of <i>MAGT1</i> Deficiency.

CD5 B-Cell Predominant Primary Immunodeficiency: Part of the Spectrum of <i>MAGT1</i> Deficiency.

CD5 B-Cell Predominant Primary Immunodeficiency: Part of the Spectrum of MAGT1 Deficiency.

Background: Selective anti-polysaccharide antibody deficiency (SPAD) with CD5 B-cell predominance and autoimmune phenomena was identified in a male cohort first reported by Antall et al in 1999. The phenotypically likewise and genotypically identical X-linked immunodeficiency with magnesium defect, Epstein-Barr Virus infection, and neoplasia (XMEN) disease was defined as a novel primary immunodeficiency (PID) in 2011. Recent studies of the magnesium transporter 1 (MAGT1) gene mutation reveal glycosylation defects contributing to more phenotypic variance than the "XMEN" title pathologies. The updated title, "X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect," was proposed in 2020.

Objectives: To reflect the patient population more accurately, a prospective classification update may consider MAGT1 glycobiological errors contributing to phenotypic variance but also pre-genetic testing era reports with CD5 B-cell predominance.

Methods: Patient 1 from Antall et al presented at 28 years of age for further immunological evaluation of his CD5/CD19 B-cell predominance diagnosed at 5 years old.

Design: Immune re-evaluation done through flow cytometry and next-generation sequencing.

Results: Flow cytometry B-cell phenotyping revealed persistent CD5+CD19+ (93%). Flow cytometric histogram quantified reduced activator CD16+CD56+ natural killer and CD8+ T-cell receptor, Group 2, Member D (NKG2D) glycoprotein expression. A c.923-1_934 deletion loss of function mutation was identified in the MAGT1 gene.

Conclusion: We suggest the novel PID XMEN, based on its CD5 B-cell predominance, had been discovered and reported over a decade earlier as CD5+ PID based on the MAGT1 mutation found in the same. We encourage consideration of combining these labels and recent findings to offer the most accurate classification of this disease.

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