Dotta Laura, Badolato Raffaele
Department of Experimental and Clinical Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, c/o Spedali Civili, 25123 Brescia, Italy.
Department of Experimental and Clinical Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, c/o Spedali Civili, 25123 Brescia, Italy.
Immunol Lett. 2014 Oct;161(2):222-5. doi: 10.1016/j.imlet.2013.11.018. Epub 2013 Dec 4.
Recurrent or prolonged severe infections associated to panleukopenia strongly suggest primary immune disorders. In recent years, new immunodeficiency syndromes turned up: besides the importance of continuous clinical characterization throughout added reports, the phenotype can easily lead to diagnosis of known rare entities. Our purpose is to review main emerging genetic syndromes featuring lymphopenia combined to neutropenia and/or monocytopenia in order to facilitate diagnosis of rare primary immune deficiencies.
与全血细胞减少相关的复发性或持续性严重感染强烈提示原发性免疫疾病。近年来,出现了新的免疫缺陷综合征:除了在不断增加的报告中持续进行临床特征描述的重要性外,其表型很容易导致对已知罕见疾病的诊断。我们的目的是回顾以淋巴细胞减少合并中性粒细胞减少和/或单核细胞减少为特征的主要新出现的遗传综合征,以便于诊断罕见的原发性免疫缺陷。