Pui Y Lee, Brad A Davidson, Roshini S Abraham, Blanche Alter, Juan I Arostegui, Katherine Bell, Alexandre Belot, Jenna R E Bergerson, Timothy J Bernard, Paul A Brogan, Yackov Berkun, Natalie T Deuitch, Dimana Dimitrova, Sophie A Georgin-Lavialle, Marco Gattorno, Bodo Grimbacher, Hasan Hashem, Michael S Hershfield, Rebecca N Ichord, Kazushi Izawa, Jennifer A Kanakry, Raju P Khubchandani, Femke C C Klouwer, Evan A Luton, Ada W Man, Isabelle Meyts, Joris M Van Montfrans, Seza Ozen, Janna Saarela, Gustavo C Santo, Aman Sharma, Ariane Soldatos, Rachel Sparks, Troy R Torgerson, Ignacio Leandro Uriarte, Taryn A B Youngstein, Qing Zhou, Ivona Aksentijevich, Daniel L Kastner, Eugene P Chambers, Amanda K Ombrello
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. 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. OBJECTIVE: To review the available evidence and develop multidisciplinary consensus statements for the evaluation and management of DADA2...
May 1, 2023: JAMA Network Open