Department of Pediatric Hematology, Oncology, and Blood and Marrow Transplantation, Cleveland Clinic Children's Hospital, Cleveland, Ohio.
Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Pediatr Blood Cancer. 2018 Oct;65(10):e27260. doi: 10.1002/pbc.27260. Epub 2018 Jun 1.
Children, adolescents, and young adults with chronic refractory autoimmune cytopenias represent a rare but challenging group of patients, who are managed frequently by pediatric hematologists. Novel diagnostic tests and genomic discoveries are refining historical diagnoses of Evans syndrome and common variable immunodeficiency, while also elucidating the cellular and molecular basis for these disorders. Genetic characterization of chronic and refractory autoimmune cytopenias has led to targeted therapies with improved clinical outcomes and fewer off-target toxicities. In this review, we focus on the appropriate diagnostic workup, expanded genetic testing, and novel treatment opportunities that are available for these challenging patients.
患有慢性难治性自身免疫性血细胞减少症的儿童、青少年和年轻成年人代表了一组罕见但具有挑战性的患者群体，经常由儿科血液病学家进行管理。新的诊断测试和基因组发现正在完善 Evans 综合征和常见可变免疫缺陷的历史诊断，同时也阐明了这些疾病的细胞和分子基础。慢性和难治性自身免疫性血细胞减少症的遗传特征导致了靶向治疗，改善了临床结果，并减少了脱靶毒性。在这篇综述中，我们重点介绍了这些具有挑战性的患者可获得的适当诊断方法、扩展的基因检测和新的治疗机会。
