Martínez-Valdez Libny, Deyà-Martínez Angela, Giner María T, Berrueco Rubén, Esteve-Solé Ana, Juan Manel, Plaza-Martín Ana M, Alsina Laia
Departments of *Allergy and Clinical Immunology ‡Hematology and Oncology, Hospital Sant Joan de Dèu, Institut de Recerca Pediàtrica Hospital Sant Joan de Dèu, Esplugues de Llobregat §Immunology Department, Hospital Clinic-IDIBAPS, Universitat de Barcelona †Functional Unit of Clinical Immunology SJD-Clinic, Barcelona, Spain.
J Pediatr Hematol Oncol. 2017 Oct;39(7):490-494. doi: 10.1097/MPH.0000000000000880.
Evans syndrome (ES) is a rare immune disorder in children, manifested by simultaneous or sequential autoimmune cytopenias (ACs) of unknown cause and having a chronic course with periods of exacerbation and remission. Some primary immunodeficiencies (PIDs) may present with autoimmune manifestations without infections, masking suspicion of them. The PIDs that can typically manifest as ES are autoimmune lymphoproliferative syndrome and common variable immunodeficiency (CVID).
Review of clinical charts and laboratory results of pediatric patients followed-up in the outpatient clinic of PID with a diagnosis of ES and humoral immunodeficiency.
Three pediatric patients, a boy and 2 girls, presented with corticosteroid-dependent ES. In the diagnostic approach, autoimmune lymphoproliferative syndrome was ruled out, and during follow-up, patients showed laboratory signs of humoral immune deficiency and were diagnosed with CVID. After initiating the recommended treatment for CVID with AC, patients improved without new exacerbations.
These cases highlight the importance of detection of possible PID in the context of ES and the establishment of CVID treatment to control AC.
伊文斯综合征（ES）是一种儿童罕见的免疫紊乱疾病，表现为不明原因的同时或相继出现的自身免疫性血细胞减少症（ACs），病程呈慢性，有加重和缓解期。一些原发性免疫缺陷病（PIDs）可能在无感染情况下出现自身免疫表现，从而掩盖了对它们的怀疑。通常可表现为ES的PIDs是自身免疫性淋巴增生综合征和普通可变免疫缺陷病（CVID）。
回顾在PID门诊随访的诊断为ES和体液免疫缺陷的儿科患者的临床病历和实验室检查结果。
3例儿科患者，1名男孩和2名女孩，表现为依赖皮质类固醇的ES。在诊断过程中，排除了自身免疫性淋巴增生综合征，在随访期间，患者出现体液免疫缺陷的实验室迹象，并被诊断为CVID。在用AC启动推荐的CVID治疗后，患者病情改善，未出现新的加重情况。
这些病例突出了在ES背景下检测可能的PID以及建立CVID治疗以控制AC的重要性。
