Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India.
Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India.
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成人和儿童腺苷脱氨酶2缺乏症：来自印度的经验。
DOI：
10.1002/art.41500
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发表时间：
2021-03
期刊：
影响因子：
--
通讯作者：
Lee PY
中科院分区：
文献类型：
--
作者：
Sharma A;Naidu G;Sharma V;Jha S;Dhooria A;Dhir V;Bhatia P;Sharma V;Bhattad S;Chengappa KG;Gupta V;Misra DP;Chavan PP;Malaviya S;Dudam R;Sharma B;Kumar S;Bhojwani R;Gupta P;Agarwal V;Sharma K;Singhal M;Rathi M;Nada R;Minz RW;Chaturvedi V;Aggarwal A;Handa R;Grossi A;Gattorno M;Huang Z;Wang J;Jois R;Negi VS;Khubchandani R;Jain S;Arostegui JI;Chambers EP;Hershfield MS;Aksentijevich I;Zhou Q;Lee PY
腺苷脱氨酶2（DADA 2）缺乏症是一种潜在的致命性单基因综合征，其特征在于系统性血管炎，骨髓衰竭和免疫缺陷的各种表现。鉴于疾病发病的典型早期年龄，大多数病例都是由儿科护理提供者诊断的。我们的目的是描述印度成人和儿童DADA 2患者的临床表型和治疗反应。我们对印度各地不同风湿病中心诊断的DADA 2患者进行了回顾性分析。分析所有受试者的临床特征、诊断结果和治疗反应。我们在2017年4月至2020年3月期间确认了33例DADA 2病例。与以前的研究不同，近一半的病例在成年期出现。所有有症状的患者均表现出血管炎的特征，而全身症状和贫血在儿科患者中更常见。皮肤和神经系统受累很常见，18例受试者至少发生过一次卒中。此外，我们通过描述新的特征，包括胰腺梗死、局灶性心肌炎和弥漫性肺泡出血，扩展了DADA 2的临床谱。25例患者开始使用肿瘤坏死因子抑制剂（TNFi）。所有测量的疾病表现在开始TNFi后显示出显著改善，并且在19名患者中实现了疾病缓解。2例合并结核感染，2例死亡。我们介绍了来自印度的第一个DADA 2患者病例系列。我们强调DADA 2在成人中的表现，并提高成人和儿科护理提供者对这种综合征的认识。
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 paediatric care providers given the typical early age of disease onset. We aim to describe the clinical phenotypes and treatment response of adults as well as paediatric DADA2 patients in India. We conducted a retrospective analysis of DADA2 patients diagnosed at various rheumatology centres across India. The clinical characteristics, diagnostic findings and treatment response of all the subjects were analysed. We confirmed 33 cases of DADA2 between April 2017 and March 2020. Unlike previous studies, nearly half of the cases presented during adulthood. All symptomatic patients exhibited features of vasculitis while constitutional symptoms and anaemia were more common in paediatric patients. Cutaneous and neurologic involvement were common and 18 subjects had at least one stroke. In addition, we expand the clinical spectrum of DADA2 by describing novel features including pancreatic infarction, focal myocarditis and diffuse alveolar haemorrhage. Tumour necrosis factor inhibitors (TNFi) were initiated for 25 patients. All measured 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 two deaths were reported. We present the first case series of DADA2 patients from India. We highlight the presentation of DADA2 in adults and raise awareness of this syndrome for both adult and paediatric care providers.
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影响因子：
14.2
作者：
Trotta, Luca;Martelius, Timi;Saarela, Janna
通讯作者：
Saarela, Janna
影响因子：
9.9
作者：
Gorospe, JR;Singhal, BS;Naidu, S
通讯作者：
Naidu, S
影响因子：
64.8
作者：
Karczewski, Konrad J;Francioli, Laurent C;MacArthur, Daniel G
通讯作者：
MacArthur, Daniel G
影响因子：
9.1
作者：
Cipe, Funda Erol;Aydogmus, Cigdem;Boztug, Kaan
通讯作者：
Boztug, Kaan
影响因子：
3
作者：
Pettersen, EF;Goddard, TD;Ferrin, TE
通讯作者：
Ferrin, TE