Article
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
JAMA network open - 1 May 2023
Lee Pui Y, Davidson Brad A, Abraham Roshini S, Alter Blanche, Arostegui Juan I, Bell Katherine, Belot Alexandre, Bergerson Jenna R E, Bernard Timothy J, Brogan Paul A, Berkun Yackov, Deuitch Natalie T, Dimitrova Dimana, Georgin-Lavialle Sophie A, Gattorno Marco, Grimbacher Bodo, Hashem Hasan, Hershfield Michael S, Ichord Rebecca N, Izawa Kazushi, Kanakry Jennifer A, Khubchandani Raju P, Klouwer Femke C C, Luton Evan A, Man Ada W, Meyts Isabelle, Van Montfrans Joris M, Ozen Seza, Saarela Janna, Santo Gustavo C, Sharma Aman, Soldatos Ariane, Sparks Rachel, Torgerson Troy R, Uriarte Ignacio Leandro, Youngstein Taryn A B, Zhou Qing, Aksentijevich Ivona, Kastner Daniel L, Chambers Eugene P, Ombrello Amanda K
Abstract excerpt
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...
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