Abolhassani Hassan, Rezaei Nima, Mohammadinejad Payam, Mirminachi Babak, Hammarstrom Lennart, Aghamohammadi Asghar
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, 62 Qarib St., Keshavarz Blvd., Tehran 14194, Iran.
Expert Rev Clin Immunol. 2015 Feb;11(2):289-302. doi: 10.1586/1744666X.2015.990440. Epub 2015 Jan 5.
Primary immunodeficiency disorders (PIDs) constitute a heterogeneous group of genetic disorders caused by defects in immunity, leading to recurrent infections, autoimmunity, lymphoproliferation and malignancies. Early diagnosis of PIDs is crucial for improving the quality of life in patients with PIDs while a delay in diagnosis, or inadequate treatment, results in an increased mortality and morbidity in affected individuals. Although most cases of PIDs present in children with recurrent and/or severe acute infections, some of the primary immune disorders are diagnosed during adulthood. Some common clues, both in children and adults, help physicians to diagnose PIDs; however, there are some specific clues to the diagnosis of PIDs for each group. This article reviews the important differences in the diagnostic spectrum of PIDs in adults versus children.
原发性免疫缺陷病(PIDs)是一组由免疫缺陷引起的遗传性疾病,具有异质性,可导致反复感染、自身免疫、淋巴细胞增殖和恶性肿瘤。原发性免疫缺陷病的早期诊断对于提高患者生活质量至关重要,而诊断延迟或治疗不当会导致患者死亡率和发病率增加。虽然大多数原发性免疫缺陷病病例出现在患有反复和/或严重急性感染的儿童中,但一些原发性免疫疾病是在成年期诊断出来的。儿童和成人的一些常见线索有助于医生诊断原发性免疫缺陷病;然而,每组原发性免疫缺陷病的诊断都有一些特定线索。本文综述了成人与儿童原发性免疫缺陷病诊断范围的重要差异。