Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Om Hospital and Research Center, Kathmandu, Nepal.
Arthritis Rheumatol. 2021 Feb;73(2):276-285. doi: 10.1002/art.41500. Epub 2020 Dec 26.
Deficiency of adenosine deaminase 2 (DADA2) is a potentially fatal monogenic syndrome characterized by variable manifestations of systemic vasculitis, bone marrow failure, and immunodeficiency. Most cases are diagnosed by pediatric care providers, given the typical early age of disease onset. This study was undertaken to describe the clinical phenotypes and treatment response both in adults and in children with DADA2 in India.
A retrospective analysis of pediatric and adult patients with DADA2 diagnosed at various rheumatology centers across India was conducted. Clinical characteristics, diagnostic findings, and treatment responses were analyzed in all subjects.
In total, 33 cases of DADA2 were confirmed in this cohort between April 2017 and March 2020. Unlike previous studies, nearly one-half of the confirmed cases presented during adulthood. All symptomatic patients exhibited features of vasculitis, whereas constitutional symptoms and anemia were more common in pediatric patients. Cutaneous and neurologic involvement were common, and 18 subjects had experienced at least one stroke. In addition, the clinical spectrum of DADA2 was expanded by recognition of novel features in these patients, including pancreatic infarction, focal myocarditis, and diffuse alveolar hemorrhage. Treatment with tumor necrosis factor inhibitors (TNFi) was initiated in 25 patients. All of the identified disease manifestations showed marked improvement after initiation of TNFi, and disease remission was achieved in 19 patients. Two cases were complicated by tuberculosis infection, and 2 deaths were reported.
This report presents the first case series of patients with DADA2 from India, diagnosed by adult and pediatric care providers. The findings raise awareness of this syndrome, particularly with regard to its presentation in adults.
腺苷脱氨酶 2（DADA2）缺乏症是一种潜在致命的单基因综合征，其特征为系统性血管炎、骨髓衰竭和免疫缺陷的表现多变。由于疾病通常在早期发生，大多数病例由儿科护理提供者诊断。本研究旨在描述印度 DADA2 患者的临床表现和治疗反应，包括成人和儿童。
对印度各地各种风湿病中心诊断的儿科和成人 DADA2 患者进行回顾性分析。对所有患者进行临床特征、诊断发现和治疗反应分析。
在 2017 年 4 月至 2020 年 3 月期间，该队列共确诊 33 例 DADA2。与以往研究不同，近一半的确诊病例出现在成年期。所有有症状的患者均表现出血管炎特征，而儿童患者更常见全身症状和贫血。皮肤和神经系统受累常见，18 例患者至少经历过一次中风。此外，通过识别这些患者的新特征，扩大了 DADA2 的临床谱，包括胰腺梗死、局灶性心肌炎和弥漫性肺泡出血。25 例患者开始使用肿瘤坏死因子抑制剂（TNFi）治疗。所有识别出的疾病表现均在开始使用 TNFi 后显著改善，19 例患者达到疾病缓解。有 2 例出现结核感染并发症，报告了 2 例死亡。
本报告介绍了印度首例 DADA2 患者的病例系列，由成人和儿科护理提供者诊断。这些发现提高了对该综合征的认识，特别是对其在成人中的表现。
