Sección Infectología, Reumatología e Inmunología Pediátrica, UGC de Pediatría, Hospital Universitario Virgen del Rocío, Seville, Spain; Laboratorio de Alteraciones Congénitas de la Inmunidad, Laboratorio 205, Instituto de Biomedicina de Sevilla, Seville, Spain; Departamento de Farmacología, Pediatría y Radiología, Facultad de Medicina, Universidad de Sevilla, Spain.
Servicio de Inmunología, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Seville, Spain.
J Allergy Clin Immunol Pract. 2022 May;10(5):1140-1153. doi: 10.1016/j.jaip.2022.02.016. Epub 2022 Feb 25.
The differential diagnosis of eosinophilia is broad and includes infections, malignancies, and atopy as well as inborn errors of immunity (IEI). Certain types of IEIs are known to be associated with elevated numbers of eosinophils and frequently elevated serum IgE, whereas for others the degree and frequency of eosinophilia are less established. The molecular defects underlying IEI are heterogeneous and affect different pathways, which highlights the complex regulations of this cell population within the immune system. In this review, we list and discuss clinical manifestations and therapies of immune deficiency or immune dysregulation disorders associated with peripheral blood or tissue eosinophilia with or without raised IgE levels. We present illustrative case vignettes for the most common entities and propose a diagnostic algorithm aiming to help physicians systematically to evaluate patients with eosinophilia and suspicion of an underlying IEI.
嗜酸性粒细胞增多的鉴别诊断范围很广,包括感染、恶性肿瘤和特应性,以及先天性免疫缺陷(IEI)。某些类型的 IEI 已知与嗜酸性粒细胞增多和频繁升高的血清 IgE 有关,而对于其他类型,嗜酸性粒细胞增多的程度和频率则不太确定。IEI 所涉及的分子缺陷具有异质性,并影响不同的途径,这突显了免疫系统中这种细胞群体的复杂调节。在这篇综述中,我们列出并讨论了与外周血或组织嗜酸性粒细胞增多(伴有或不伴有 IgE 水平升高)相关的免疫缺陷或免疫调节紊乱的临床表现和治疗方法。我们提供了最常见实体的说明性病例,提出了一个诊断算法,旨在帮助医生系统地评估嗜酸性粒细胞增多和潜在 IEI 怀疑的患者。