1, 2 DADA2 is caused by biallelic pathogenic variants in the ADA2 gene (formerly known as CECR1) on chromosome 22q11. By summarizing key evidence and expert opinions, these consensus statements provide a framework to facilitate diagnostic evaluation and management of DADA2.ĭeficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or immunodeficiency. Areas with insufficient evidence were identified, and questions for future research were outlined.Ĭonclusions and Relevance DADA2 is a potentially fatal disease that requires early diagnosis and treatment. Additional consensus statements related to the evaluation and treatment of individuals with DADA2 who are presymptomatic and carriers were generated. 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.įindings 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. A comprehensive literature review was performed for articles published prior to 2022. Objective To review the available evidence and develop multidisciplinary consensus statements for the evaluation and management of DADA2.Įvidence Review 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. 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. Importance 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. B. Youngstein, MB, BS, MD 34 Qing Zhou, PhD 35 Ivona Aksentijevich, MD 13 Daniel L. Kastner, MD, PhD 13 Eugene P. Chambers, MD 2,7 Amanda K. Ombrello, MD 13 for the DADA2 Foundation E. Bergerson, MD, MPH 9 Timothy J. Bernard, MD, MSCS 10 Paul A. Brogan, BSc, MBChB, MSc, PhD 11 Yackov Berkun, MD 12 Natalie T. Deuitch, MS, CGC 13 Dimana Dimitrova, MD 4 Sophie A. Georgin-Lavialle, MD, PhD 14 Marco Gattorno, MD 15 Bodo Grimbacher, MD 16 Hasan Hashem, MD 17 Michael S. Hershfield, MD 18 Rebecca N. Ichord, MD 19 Kazushi Izawa, MD, PhD 20 Jennifer A. Kanakry, MD 4 Raju P. Khubchandani, MD 21 Femke C.C. Klouwer, MD, PhD 22 Evan A. Luton, MAT 7 Ada W. Man, MD 23 Isabelle Meyts, MD, PhD 24 Joris M. Van Montfrans, MD, PhD 25 Seza Ozen, MD 26 Janna Saarela, MD, PhD 27,28 Gustavo C. Santo, MD 29 Aman Sharma, MD 30 Ariane Soldatos, MD, MPH 31 Rachel Sparks, MD 9 Troy R. Torgerson, MD, PhD 32 Ignacio Leandro Uriarte, MD 33 Taryn A. Pui Y. Lee, MD, PhD 1 Brad A. Davidson, BS 2 Roshini S. Abraham, PhD 3 et al Blanche Alter, MD, MPH 4 Juan I. Arostegui, MD, PhD 5,6 Katherine Bell, MFA 7 Alexandre Belot, MD, PhD 8 Jenna R. Shared Decision Making and Communication.Scientific Discovery and the Future of Medicine.Health Care Economics, Insurance, Payment.Clinical Implications of Basic Neuroscience.Challenges in Clinical Electrocardiography.
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