JAMANetworkOpen.6Consensus Statement PediatricsEvaluation and Management of Deficiency of Adenosine Deaminase 2An International Consensus StatementPuiY.Lee,MD,PhD:BradA.Davidson,BS:RoshiniS.Abraham,PhD:Blanche Alter,MD,MPH:JuanI.Arostegui,MD.PhD:Katherine Bell,MFA:Alexandre Belot,MD.PhD:Jenna R.E.Bergerson,MD.MPH:Timothy J.Bernard,MD,MSCS:Paul A.Brogan,BSc,MBChB.MSc,PhD:Yackov Berkun,MD:Natalie T.Deuitch,MS,CGC:Dimana Dimitrova,MD:Sophie A.Georgin-Lavialle,MD,PhD:Marco Gattomo,MD:BodoGrimbacher,MD:Hasan Hashem,MD:Michael S.Hershfield,MD:Rebecca N.lchord,MD:Kazushi lzawa,MD,PhD:Jennifer A.Kanakry.MD:Raju P.Khubchandani,MD:Femke C.C.Klouwer,MD,PhD:Evan A.Luton,MAT;Ada W.Man,MD:lsabelle Meyts,MD.PhD:Joris M.Van Montfrans,MD,PhD:Seza Ozen,MD:Janna Saarela,MD,PhD:GustavoC.Santo,MD:Aman Sharma,MD:ArianeSoldatos,MD.MPH:Rachel Sparks.MD:Troy R.Torgerson.MD.PhD,IgnadoLeandro Uriarte,MD:Taryn A.B.Youngstein,MB.BS.MD:Qing Zhou.PhD:Ivona Aksentijevich,MD:Daniel L.Kastnet,MD.PhD:Eugene P.Chambers,MD:Amanda K.Ombrello,MD:for the DADA2 FoundationAbstractKey PointsQuestion What are the optimalIMPORTANCE Deficiency of adenosine deaminase 2(DADA2)is a recessively inherited diseaseapproaches to diagnose and treatcharacterized by systemic vasculitis,early-onset stroke,bone marrow failure,and/orpatients with deficiency ofadenosineimmunodeficiency affecting both children and adults.DADA2 is among the more commondeaminase2(DADA2)?monogenic autoinflammatory diseases,with an estimate of more than 35 000 cases worldwide,butcurrently,there are no guidelines for diagnostic evaluat ion or management.Findings This consensus statementaddresses key questionsaboutOBJECTIVE To review the available evidence and develop multidisciplinary consensus statementsdiagnostic testing.screening clinicalfor the evaluation and management of DADA2.evaluation,and management of DADA2based on a comprehensiveliteratureEVIDENCE REVIEW The DADA2 Consensus Committee developed research questions based onreview and expert opinions by thedatacollected from the International Meetingson DADA2 organized by the DADA2 Foundation inDADA2 Consensus Committee2016.2018,and 2020.Acomprehensive literature review was performed for articles publishedpriorcomprised of patient representativesto 2022.Thirty-two consensus statements were generated using a modified Delphi process,andand global experts representing adultevidence was graded using the Oxford Center for Evidence-Based Medicine Levels of Evidence.and pediatric subspecialtiesMeaning The consensus statementFINDINGS The DADA2 Consensus Committee,comprising 3 patient representatives and 35providesa framework to facilitate theinternational experts from 18 countries,developed consensus statements for (1)diagnostic testing.diagnostic evaluation and management(2)screening.(3)clinical and laboratory evaluation,and (4)management of DADA2 based on diseaseof DADA2.phenotype.Addit ional consensus statements related to the evaluation and treatment of individualswith DADA2
