■在这项研究中,我们回顾性回顾了流式细胞术(FCM)在阿尔及利亚一个中心诊断先天性免疫错误(IEI)中的应用.分享对我们的实践经验的见解,我们提出了适用于不同临床情景的基于FCM的诊断方法.
■在2017年5月至2024年2月之间,对具有提示免疫缺陷的临床特征的儿童和成人患者进行了FCM评估,包括淋巴细胞亚群分析,检测特定表面或细胞内蛋白质,和免疫细胞的功能分析。
■在将近七年的时间里,我们的实验室共诊断出670名患者(男性372名(55.5%)和女性298名(44.5%)),分布到70个不同的IEI中,这些IEI属于国际免疫学会联盟分类的9个不同类别。FCM用于对514例患者(76.7%)的IEI进行诊断和分类。它为IEI提供了直接的诊断见解,如严重的联合免疫缺陷,Omenn综合征,MHCII类缺乏症,家族性噬血细胞性淋巴组织细胞增生症,和CD55缺乏。对于某些IEI,包括高IgE综合征,STAT1-函数增益,自身免疫性淋巴增生综合征,和激活的PI3Kδ综合征,FCM提供了暗示性证据,需要随后的基因检测进行确认。蛋白质表达和功能测定在确定各种疾病的明确诊断中起着至关重要的作用。为了以高质量和可重复的质量设置此类诊断测定,需要高水平的专业知识;需要确定内部参考值,并且强烈建议对健康对照进行平行测试。
流式细胞术已成为诊断和研究大多数IEI的一种非常有价值且具有成本效益的工具,特别是在低收入国家,那里获得基因检测的机会可能受到限制。FCM分析可以为大多数常见的IEI提供直接的诊断见解,提供潜在遗传缺陷的线索,和/或帮助缩小要分析的推定基因的列表。
UNASSIGNED: In this study, we retrospectively reviewed the use of flow cytometry (FCM) in the diagnosis of inborn errors of immunity (IEIs) at a single center in Algeria. Sharing insights into our practical experience, we present FCM based diagnostic approaches adapted to different clinical scenarios.
UNASSIGNED: Between May 2017 and February 2024, pediatric and adult patients presenting with clinical features suggestive of immunodeficiency were subjected to FCM evaluation, including lymphocyte subset analysis, detection of specific surface or intracellular proteins, and functional analysis of immune cells.
UNASSIGNED: Over a nearly seven-year period, our laboratory diagnosed a total of 670 patients (372 (55.5%) males and 298 (44.5%) females), distributed into 70 different IEIs belonging to 9 different categories of the International Union of Immunological Societies classification. FCM was used to diagnose and categorize IEI in 514 patients (76.7%). It provided direct diagnostic insights for IEIs such as severe combined immunodeficiency, Omenn syndrome, MHC class II deficiency, familial hemophagocytic lymphohistiocytosis, and CD55 deficiency. For certain IEIs, including hyper-IgE syndrome, STAT1-gain of function, autoimmune lymphoproliferative syndrome, and activated PI3K delta syndrome, FCM offered suggestive evidence, necessitating subsequent genetic testing for confirmation. Protein expression and functional assays played a crucial role in establishing definitive diagnoses for various disorders. To setup such diagnostic assays at high and reproducible quality, high level of expertise is required; in house reference values need to be determined and the parallel testing of healthy controls is highly recommended.
UNASSIGNED: Flow cytometry has emerged as a highly valuable and cost-effective tool for diagnosing and studying most IEIs, particularly in low-income countries where access to genetic testing can be limited. FCM analysis could provide direct diagnostic insights for most common IEIs, offer clues to the underlying genetic defects, and/or aid in narrowing the list of putative genes to be analyzed.