腺苷脱氨酶缺乏症 2 (DADA2) 是一种自身炎症性疾病，由 CECR1 基因突变引起。主要临床表现包括复发性血管炎、中风等神经系统疾病、血液学异常和免疫缺陷。正如之前的研究报道，DADA2可能表现为缺血性或出血性中风。这种疾病还包括各种血液学表现（纯红细胞再生障碍、全血细胞减少、溶血性贫血和累及骨髓的全血细胞减少）。案例展示。在本病例报告中，我们介绍了两名无关的 DADA2 患者的临床和免疫学结果。第一位患者是一名7岁女性，反复出现眩晕、耳鸣、听力下降、右侧偏瘫等神经症状。她的脑部磁共振成像（MRI）显示她患有左侧中风，她对抗肿瘤坏死因子α药物和血浆置换反应良好。第二名患者是一名 6 岁女性，患有反复发烧和双细胞减少、口疮性病变、颈部淋巴结肿大和肝酶升高。我们还讨论了用于管理这两名 DADA2 患者临床表现的策略。在本病例报告中，我们讨论了两例 DADA2 缺陷病例及其各自的表现。第一个病例出现神经系统症状，第二个病例出现血液系统症状。尽管由于 DADA2 罕见，目前尚无确定的治疗方法，但类固醇通常用于治疗这种疾病。抗肿瘤坏死因子也能有效控制症状，尤其是神经系统症状。如果这些治疗没有适当反应，造血干细胞移植可能会有所帮助。版权所有 © 2024 Parvaneh Karimzade 等人。

Adenosine deaminase deficiency 2 (DADA2) is an autoinflammatory disorder, caused by the CECR1 gene mutation. The major clinical manifestations include recurrent vasculitis, neurological disorders such as stroke, hematologic abnormalities, and immunodeficiency. As reported in previous studies, DADA2 may be manifested by ischemic or hemorrhagic strokes. This disorder also includes various hematological manifestations (pure red cell aplasia, pancytopenia, hemolytic anemia, and pancytopenia with bone marrow involvement). Case Presentation. In this case report, we present the clinical and immunological findings of two unrelated patients with DADA2. The first patient was a 7-year-old female who experienced recurrent neurological symptoms such as vertigo, tinnitus, hearing loss, and right-sided hemiparesis. Her brain magnetic resonance imaging (MRI) revealed a left-sided stroke, and she responded well to antitumor necrosis factor alpha agents and plasmapheresis. The second patient was a 6-year-old female who had recurrent fever and bicytopenia, aphthous lesions, cervical lymphadenopathy, and elevated liver enzymes. We also discussed the strategies used to manage the clinical manifestations in these two DADA2 patients.In this case report, we discussed two cases with DADA2 deficiency and their respective manifestations. The first case showed neurological symptoms while the second case had hematological symptoms. Although there is no established treatment for DADA2 due to its rarity, steroids are commonly used to treat this disorder. Antitumor necrosis factor is also effective in controlling the symptoms, especially the neurological ones. In cases where there is no appropriate response to these treatments, hematopoietic stem cell transplantation can be beneficial.Copyright © 2024 Parvaneh Karimzade et al.