Objectives Deficiency of adenosine deaminase-2 (DADA2) is a monogenic disorder closely resembling PAN and can present to physicians across various specialties. Through this case series, we aimed to study and describe the clinical spectrum of and outcomes for Indian children with DADA2. Methods The de-identified data from all participating centres were entered in an Excel spreadsheet, and the coordinating centre (All India Institute of Medical Sciences, New Delhi) screened the data for accuracy and completeness. Results We enrolled 16 children (11 females) in the study; the mean (s.d.) age at the time of onset of symptoms for males and females was 46.2 (47) and 73.6 (50.4) months, respectively. The most common clinical features in this cohort were fever and rash in 80% of patients. More than half of the children, n (%) [8, (53%)] had a CNS stroke. The other clinical features were hypertension [5(33%)], anaemia [3 (20%)] and arthralgia/arthritis in 4 (26%). These children were managed with various immunomodulators: steroids [13, (86%)], anti-TNF agents [12, (80%)], CYC [2 (13%)] and MMF [3 (20%)]. The median [interquartile range (IQR)] duration of follow-up for this cohort was 17 (10, 29) months. Fourteen children achieved remission, and none had recurrent strokes after the initiation of anti-TNF drugs. Conclusion DADA-2 closely resembles PAN; early age of onset and CNS stroke are striking differentiating features from classic PAN. Most children respond well to anti-TNF agents without serious adverse events being observed during short-term follow-up.

中文翻译：

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印度腺苷脱氨酶 2 （DADA2） 缺乏症儿童的临床范围和结果：一项多中心研究


目的 腺苷脱氨酶 2 （DADA2） 缺乏症是一种与 PAN 非常相似的单基因疾病，可呈现给各个专业的医生。通过这个病例系列，我们旨在研究和描述印度 DADA2 儿童的临床范围和结果。方法 将所有参与中心的去标识化数据输入到 Excel 电子表格中，协调中心（新德里全印度医学科学研究所）筛选数据的准确性和完整性。结果 我们在研究中招募了 16 名儿童 （11 名女性）;男性和女性出现症状时的平均 （S.D.） 年龄分别为 46.2 （47） 和 73.6 （50.4） 个月。该队列中最常见的临床特征是 80% 的患者出现发热和皮疹。超过一半的儿童，n （%） [8， （53%）] 患有 CNS 中风。其他临床特征是高血压 [5 （33%）]、贫血 [3 （20%）] 和 4 例 （26%） 的关节痛/关节炎。这些儿童接受各种免疫调节剂治疗：类固醇 [13， （86%）]、抗 TNF 药物 [12， （80%）]、CYC [2 （13%）] 和 MMF [3 （20%）]。该队列的中位 [四分位距 （IQR）] 随访时间为 17 （10， 29） 个月。14 例儿童达到缓解，在开始使用抗 TNF 药物后无一例复发性卒中。结论 DADA-2 与 PAN 非常相似;早发和 CNS 卒中是与典型 PAN 显著不同的特征。大多数儿童对抗 TNF 药物反应良好，在短期随访期间未观察到严重不良事件。