Simão Raimundo Diana, Cordeiro Ana Isabel, Parente Freixo João, Valente Pinto Marta, Neves Conceição, Farela Neves João
Pediatrics Department, Hospital do Divino Espírito Santo, Ponta Delgada, Portugal.
Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal.
Front Pediatr. 2023 Jun 14;11:1200401. doi: 10.3389/fped.2023.1200401. eCollection 2023.
Deficiency of adenosine deaminase 2 (DADA2), first reported in 2014, is a disease with great phenotypic variability, which has been increasingly reported. Therapeutic response depends on the phenotype. We present a case of an adolescent with recurrent fever, oral aphthous ulcers, and lymphadenopathy from 8 to 12 years of age and subsequently presented with symptomatic neutropenia. After the diagnosis of DADA2, therapy with infliximab was started, but after the second dose, she developed leukocytoclastic vasculitis and showed symptoms of myopericarditis. Infliximab was switched to etanercept, with no relapses. Despite the safety of tumor necrosis factor alpha inhibitors (TNFi), paradoxical adverse effects have been increasingly reported. The differential diagnosis between disease new-onset manifestations of DADA2 and side effects of TNFi can be challenging and warrants further clarification.
腺苷脱氨酶2（DADA2）缺乏症于2014年首次报道，是一种具有高度表型变异性的疾病，且报道日益增多。治疗反应取决于表型。我们报告一例青少年病例，该患者8至12岁时反复发热、口腔阿弗他溃疡及淋巴结病，随后出现症状性中性粒细胞减少。诊断为DADA2后，开始使用英夫利昔单抗治疗，但在第二剂后，她出现了白细胞破碎性血管炎并表现出心肌心包炎症状。英夫利昔单抗换用了依那西普，此后未再复发。尽管肿瘤坏死因子α抑制剂（TNFi）安全性良好，但矛盾的不良反应报道日益增多。DADA2疾病新发表现与TNFi副作用之间的鉴别诊断可能具有挑战性，需要进一步阐明。
