Wu Eveline Y, Ehrlich Lauren, Handly Brian, Frush Donald P, Buckley Rebecca H
Department of Pediatrics, University of North Carolina at Chapel Hill, 030 MacNider Hall, CB#7231, Chapel Hill, NC, 27599, USA.
Department of Diagnostic Radiology, Yale School of Medicine, New Haven, CT, USA.
Pediatr Radiol. 2016 Nov;46(12):1630-1644. doi: 10.1007/s00247-016-3684-x. Epub 2016 Sep 22.
Primary immunodeficiencies are a group of genetically determined disorders with diverse presentations. The purpose of this review is to provide a practical and brief description of a select number of these diseases and to discuss the important role the radiologist can have in making an early diagnosis and in detecting and following disease complications. The role of diagnostic imaging and informed performance and interpretation are vital in the diagnosis, surveillance and management of all primary immunodeficiency disorders.
原发性免疫缺陷是一组具有多种临床表现的遗传性疾病。本综述的目的是对其中一些疾病进行实用且简要的描述,并讨论放射科医生在早期诊断以及检测和跟踪疾病并发症方面可发挥的重要作用。诊断成像以及明智的检查实施和解读在所有原发性免疫缺陷疾病的诊断、监测和管理中至关重要。