Abstract：
UNASSIGNED: Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or immunodeficiency affecting both children and adults. DADA2 is among the more common monogenic autoinflammatory diseases, with an estimate of more than 35 000 cases worldwide, but currently, there are no guidelines for diagnostic evaluation or management.
UNASSIGNED: To review the available evidence and develop multidisciplinary consensus statements for the evaluation and management of DADA2.
UNASSIGNED: The DADA2 Consensus Committee developed research questions based on data collected from the International Meetings on DADA2 organized by the DADA2 Foundation in 2016, 2018, and 2020. A comprehensive literature review was performed for articles published prior to 2022. Thirty-two consensus statements were generated using a modified Delphi process, and evidence was graded using the Oxford Center for Evidence-Based Medicine Levels of Evidence.
UNASSIGNED: The DADA2 Consensus Committee, comprising 3 patient representatives and 35 international experts from 18 countries, developed consensus statements for (1) diagnostic testing, (2) screening, (3) clinical and laboratory evaluation, and (4) management of DADA2 based on disease phenotype. Additional consensus statements related to the evaluation and treatment of individuals with DADA2 who are presymptomatic and carriers were generated. Areas with insufficient evidence were identified, and questions for future research were outlined.
UNASSIGNED: DADA2 is a potentially fatal disease that requires early diagnosis and treatment. By summarizing key evidence and expert opinions, these consensus statements provide a framework to facilitate diagnostic evaluation and management of DADA2.
UNASSIGNED: To review the available evidence and develop multidisciplinary consensus statements for the evaluation and management of DADA2.
UNASSIGNED: The DADA2 Consensus Committee developed research questions based on data collected from the International Meetings on DADA2 organized by the DADA2 Foundation in 2016, 2018, and 2020. A comprehensive literature review was performed for articles published prior to 2022. Thirty-two consensus statements were generated using a modified Delphi process, and evidence was graded using the Oxford Center for Evidence-Based Medicine Levels of Evidence.
UNASSIGNED: The DADA2 Consensus Committee, comprising 3 patient representatives and 35 international experts from 18 countries, developed consensus statements for (1) diagnostic testing, (2) screening, (3) clinical and laboratory evaluation, and (4) management of DADA2 based on disease phenotype. Additional consensus statements related to the evaluation and treatment of individuals with DADA2 who are presymptomatic and carriers were generated. Areas with insufficient evidence were identified, and questions for future research were outlined.
UNASSIGNED: DADA2 is a potentially fatal disease that requires early diagnosis and treatment. By summarizing key evidence and expert opinions, these consensus statements provide a framework to facilitate diagnostic evaluation and management of DADA2.
摘要：
■腺苷脱氨酶2（DADA2）缺乏症是一种以系统性血管炎为特征的隐性遗传性疾病，早发性中风,骨髓衰竭,和/或影响儿童和成人的免疫缺陷。DADA2是较常见的单基因自身炎性疾病之一,据估计，全球有超过35000例病例，但是目前，没有诊断评估或管理指南.
■审查现有证据，并为DADA2的评估和管理制定多学科共识声明。
■DADA2共识委员会根据DADA2基金会于2016年，2018年和2020年组织的DADA2国际会议收集的数据，提出了研究问题。对2022年之前发表的文章进行了全面的文献综述。使用改进的德尔菲过程生成了32份共识声明，并使用牛津循证医学中心对证据进行分级。
■DADA2共识委员会，由来自18个国家的3名患者代表和35名国际专家组成，为(1)诊断测试制定了共识声明，(2)筛选,（3）临床和实验室评价，(4)基于疾病表型的DADA2管理。产生了与症状前和携带者的DADA2患者的评估和治疗有关的其他共识声明。发现证据不足的地方,并概述了未来研究的问题。
■DADA2是一种潜在的致命疾病，需要早期诊断和治疗。通过总结关键证据和专家意见，这些共识声明为DADA2的诊断评估和管理提供了框架.
■审查现有证据，并为DADA2的评估和管理制定多学科共识声明。
■DADA2共识委员会根据DADA2基金会于2016年，2018年和2020年组织的DADA2国际会议收集的数据，提出了研究问题。对2022年之前发表的文章进行了全面的文献综述。使用改进的德尔菲过程生成了32份共识声明，并使用牛津循证医学中心对证据进行分级。
■DADA2共识委员会，由来自18个国家的3名患者代表和35名国际专家组成，为(1)诊断测试制定了共识声明，(2)筛选,（3）临床和实验室评价，(4)基于疾病表型的DADA2管理。产生了与症状前和携带者的DADA2患者的评估和治疗有关的其他共识声明。发现证据不足的地方,并概述了未来研究的问题。
■DADA2是一种潜在的致命疾病，需要早期诊断和治疗。通过总结关键证据和专家意见，这些共识声明为DADA2的诊断评估和管理提供了框架.
