早产儿先天性免疫缺陷：识别和诊断面临的挑战。
Inborn Errors of Immunity in the Premature Infant: Challenges in Recognition and Diagnosis.
机构信息
Division of Neonatology, Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
Division of Newborn Medicine, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, United States.
出版信息
Front Immunol. 2021 Dec 24;12:758373. doi: 10.3389/fimmu.2021.758373. eCollection 2021.
Due to heightened awareness and advanced genetic tools, inborn errors of immunity (IEI) are increasingly recognized in children. However, diagnosing of IEI in premature infants is challenging and, subsequently, reports of IEI in premature infants remain rare. This review focuses on how common disorders of prematurity, such as sepsis, necrotizing enterocolitis, and bronchopulmonary dysplasia, can clinically overlap with presenting signs of IEI. We present four recent cases from a single neonatal intensive care unit that highlight diagnostic dilemmas facing neonatologists and clinical immunologists when considering IEI in preterm infants. Finally, we present a conceptual framework for when to consider IEI in premature infants and a guide to initial workup of premature infants suspected of having IEI.
由于人们对疾病的认识不断提高，以及先进的基因检测技术的应用，越来越多的儿童被诊断出患有先天性免疫缺陷（IEI）。然而，早产儿的 IEI 诊断具有挑战性，因此，早产儿 IEI 的报告仍然很少见。本综述重点介绍了一些常见的早产儿疾病，如败血症、坏死性小肠结肠炎和支气管肺发育不良，这些疾病如何在临床上与 IEI 的表现体征相重叠。我们介绍了来自单一新生儿重症监护病房的四个最近的病例，这些病例突出了新生儿科医生和临床免疫学家在考虑早产儿 IEI 时面临的诊断难题。最后，我们提出了一个考虑早产儿 IEI 的概念框架，并提供了一个针对疑似 IEI 的早产儿的初始检测指南。
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