{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T12:25:31Z","timestamp":1789907131395,"version":"4.0.1"},"reference-count":55,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,10,18]],"date-time":"2018-10-18T00:00:00Z","timestamp":1539820800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"DOI":"10.3389\/fped.2018.00282","type":"journal-article","created":{"date-parts":[[2018,10,18]],"date-time":"2018-10-18T07:14:33Z","timestamp":1539846873000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":79,"title":["Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2"],"prefix":"10.3389","volume":"6","author":[{"given":"Pui Y.","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2018,10,18]]},"reference":[{"key":"B1","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/B978-0-323-24145-8.00032-6","article-title":"Vasculitis and its classification","volume-title":"Textbook of Pediatric Rheumatology","author":"Petty","year":"2016"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/art.37715","article-title":"2012 revised international chapel hill consensus conference nomenclature of vasculitides","volume":"65","author":"Jennette","year":"2013","journal-title":"Arthritis Rheum"},{"key":"B3","doi-asserted-by":"publisher","first-page":"936","DOI":"10.1136\/ard.2005.046300","article-title":"EULAR\/PReS endorsed consensus criteria for the classification of childhood vasculitides","volume":"65","author":"Ozen","year":"2006","journal-title":"Ann Rheum Dis."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1016\/S0140-6736(02)11279-7","article-title":"Incidence of Henoch-Schonlein purpura, Kawasaki disease, and rare vasculitides in children of different ethnic origins","volume":"360","author":"Gardner-Medwin","year":"2002","journal-title":"Lancet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1097\/BOR.0b013e32833654a8","article-title":"Genetics of vasculitis","volume":"22","author":"Monach","year":"2010","journal-title":"Curr Opin Rheumatol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1016\/j.it.2008.09.003","article-title":"Antineutrophil cytoplasmic antibody-associated vasculitis: autoinflammation, autodestruction and autoimmunity\u2013key to new therapies","volume":"29","author":"Lamprecht","year":"2008","journal-title":"Trends Immunol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1097\/BOR.0000000000000347","article-title":"Vasculitis in the autoinflammatory diseases","volume":"29","author":"Peleg","year":"2017","journal-title":"Curr Opin Rheumatol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1007\/s00296-017-3839-6","article-title":"Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes","volume":"38","author":"Jain","year":"2018","journal-title":"Rheumatol Int."},{"key":"B9","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1056\/NEJMoa1307361","article-title":"Early-onset stroke and vasculopathy associated with mutations in ADA2","volume":"370","author":"Zhou","year":"2014","journal-title":"N Engl J Med."},{"key":"B10","doi-asserted-by":"publisher","first-page":"921","DOI":"10.1056\/NEJMoa1307362","article-title":"Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy","volume":"370","author":"Navon Elkan","year":"2014","journal-title":"N Engl J Med."},{"key":"B11","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1186\/s12969-016-0111-7","article-title":"Monogenic polyarteritis: the lesson of ADA2 deficiency","volume":"14","author":"Caorsi","year":"2016","journal-title":"Pediatr Rheumatol Online J."},{"key":"B12","doi-asserted-by":"publisher","first-page":"902","DOI":"10.1093\/rheumatology\/kev439","article-title":"Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations","volume":"55","author":"Van Montfrans","year":"2016","journal-title":"Rheumatology"},{"key":"B13","doi-asserted-by":"publisher","first-page":"2314","DOI":"10.1002\/art.39699","article-title":"Deficiency of adenosine deaminase type 2: a description of phenotype and genotype in fifteen cases","volume":"68","author":"Nanthapisal","year":"2016","journal-title":"Arthritis Rheumatol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1038\/nrd2638","article-title":"Adenosine receptors: therapeutic aspects for inflammatory and immune diseases","volume":"7","author":"Hasko","year":"2008","journal-title":"Nat Rev Drug Discov."},{"key":"B15","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/S0140-6736(72)92345-8","article-title":"Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity","volume":"2","author":"Giblett","year":"1972","journal-title":"Lancet"},{"key":"B16","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1073\/pnas.75.1.446","article-title":"Characterization of the residual adenosine deaminating activity in the spleen of a patient with combined immunodeficiency disease and adenosine deaminase deficiency","volume":"75","author":"Schrader","year":"1978","journal-title":"Proc Natl Acad Sci USA."},{"key":"B17","doi-asserted-by":"publisher","first-page":"1053","DOI":"10.1101\/gr.154901","article-title":"Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere","volume":"11","author":"Footz","year":"2001","journal-title":"Genome Res."},{"key":"B18","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1006\/geno.1999.6099","article-title":"The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome","volume":"64","author":"Riazi","year":"2000","journal-title":"Genomics"},{"key":"B19","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1042\/BJ20050683","article-title":"Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity","volume":"391","author":"Zavialov","year":"2005","journal-title":"Biochem J."},{"key":"B20","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1182\/blood.V72.5.1627.1627","article-title":"Differential expression of adenosine deaminase isozymes in acute leukemia","volume":"72","author":"Ratech","year":"","journal-title":"Blood ("},{"key":"B21","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1515\/BC.2006.042","article-title":"Human plasma adenosine deaminase 2 is secreted by activated monocytes","volume":"387","author":"Iwaki-Egawa","year":"2006","journal-title":"Biol Chem."},{"key":"B22","doi-asserted-by":"publisher","first-page":"12367","DOI":"10.1074\/jbc.M109.083527","article-title":"Structural basis for the growth factor activity of human adenosine deaminase ADA2","volume":"285","author":"Zavialov","year":"2010","journal-title":"J Biol Chem."},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2018.05.038","article-title":"Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2","author":"Lee","year":"2018","journal-title":"J Allergy Clin Immunol."},{"key":"B24","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1007\/s00018-016-2357-0","article-title":"Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells","volume":"74","author":"Kaljas","year":"2017","journal-title":"Cell Mol Life Sci."},{"key":"B25","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1007\/s11926-017-0699-8","article-title":"Deficiency of adenosine deaminase 2 (DADA2), an inherited cause of polyarteritis nodosa and a mimic of other systemic rheumatologic disorders","volume":"19","author":"Hashem","year":"2017","journal-title":"Curr Rheumatol Rep."},{"key":"B26","first-page":"107","article-title":"Serum adenosine deaminase activity in HIV positive subjects","volume":"31","author":"Gakis","year":"1989","journal-title":"Panminerva Med."},{"key":"B27","first-page":"87","article-title":"Correlation of serum levels of adenosine deaminase activity and its isoenzymes with disease activity in rheumatoid arthritis","volume":"21","author":"Sari","year":"2003","journal-title":"Clin Exp Rheumatol."},{"key":"B28","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1189\/jlb.1109764","article-title":"Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages","volume":"88","author":"Zavialov","year":"2010","journal-title":"J Leukoc Biol."},{"key":"B29","doi-asserted-by":"publisher","first-page":"5356","DOI":"10.1038\/onc.2017.145","article-title":"CECR1-mediated cross talk between macrophages and vascular mural cells promotes neovascularization in malignant glioma","volume":"36","author":"Zhu","year":"2017","journal-title":"Oncogene"},{"key":"B30","doi-asserted-by":"publisher","first-page":"4403","DOI":"10.1073\/pnas.062059699","article-title":"Adenosine deaminase-related growth factors stimulate cell proliferation in Drosophila by depleting extracellular adenosine","volume":"99","author":"Zurovec","year":"2002","journal-title":"Proc Natl Acad Sci USA."},{"key":"B31","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/0003-2697(90)90455-I","article-title":"Automated enzymatic measurement of adenosine deaminase isoenzyme activities in serum","volume":"187","author":"Muraoka","year":"1990","journal-title":"Anal Biochem."},{"key":"B32","doi-asserted-by":"publisher","first-page":"129","DOI":"10.3390\/genes7120129","article-title":"Functions of the RNA editing enzyme ADAR1 and their relevance to human diseases","volume":"7","author":"Song","year":"2016","journal-title":"Genes"},{"key":"B33","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1126\/science.aac7049","article-title":"RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself","volume":"349","author":"Liddicoat","year":"2015","journal-title":"Science"},{"key":"B34","doi-asserted-by":"publisher","first-page":"1243","DOI":"10.1038\/ng.2414","article-title":"Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature","volume":"44","author":"Rice","year":"2012","journal-title":"Nat Genet."},{"key":"B35","doi-asserted-by":"publisher","first-page":"2682","DOI":"10.1182\/blood-2017-07-798660","article-title":"Hematopoietic stem cell transplantation rescues the hematological, immunological, vascular phenotype in DADA2","volume":"130","author":"Hashem","year":"2017","journal-title":"Blood"},{"key":"B36","doi-asserted-by":"publisher","first-page":"1648","DOI":"10.1136\/annrheumdis-2016-210802","article-title":"ADA2 deficiency (DADA2) as an unrecognized cause of early onset polyarteritis nodosa and stroke: a multicentre national study","volume":"76","author":"Caorsi","year":"2017","journal-title":"Ann Rheum Dis."},{"key":"B37","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1056\/NEJMc1405506","article-title":"Mutant ADA2 in vasculopathies","volume":"371","author":"Bras","year":"2014","journal-title":"N Engl J Med."},{"key":"B38","doi-asserted-by":"publisher","first-page":"1230","DOI":"10.1001\/jamadermatol.2015.1635","article-title":"Dermatologic features of ADA2 deficiency in cutaneous polyarteritis nodosa","volume":"151","author":"Gonzalez Santiago","year":"2015","journal-title":"JAMA Dermatol."},{"key":"B39","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1055\/s-0036-1597611","article-title":"Stroke as initial manifestation of adenosine deaminase 2 deficiency","volume":"48","author":"Elbracht","year":"2017","journal-title":"Neuropediatrics"},{"key":"B40","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1007\/s00296-017-3740-3","article-title":"Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency","volume":"38","author":"Sahin","year":"2018","journal-title":"Rheumatol Int."},{"key":"B41","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1016\/j.jaci.2014.10.010","article-title":"Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency","volume":"135","author":"Van Eyck","year":"2015","journal-title":"J Allergy Clin Immunol."},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurad.2018.05.002","article-title":"Deficiency of adenosine deaminase 2; special focus on central nervous system imaging","author":"Bulut","year":"2018","journal-title":"J Neuroradiol."},{"key":"B43","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1007\/s00415-016-8070-y","article-title":"Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis","volume":"263","author":"Poswar Fde","year":"2016","journal-title":"J Neurol."},{"key":"B44","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s10875-016-0245-x","article-title":"Deficiency of adenosine deaminase 2 causes antibody deficiency","volume":"36","author":"Schepp","year":"2016","journal-title":"J Clin Immunol."},{"key":"B45","doi-asserted-by":"publisher","first-page":"1689","DOI":"10.1002\/art.40147","article-title":"Screening of 181 patients with antibody deficiency for deficiency of adenosine deaminase 2 sheds new light on the disease in adulthood","volume":"69","author":"Schepp","year":"2017","journal-title":"Arthritis Rheumatol."},{"key":"B46","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1186\/1546-0096-11-42","article-title":"Hypergammaglobulinemia in the pediatric population as a marker for underlying autoimmune disease: a retrospective cohort study","volume":"11","author":"Lo","year":"2013","journal-title":"Pediatr Rheumatol Online J."},{"key":"B47","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1016\/j.jpeds.2016.06.058","article-title":"Extending the clinical phenotype of adenosine deaminase 2 deficiency","volume":"177","author":"Ben-Ami","year":"2016","journal-title":"J Pediatr."},{"key":"B48","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1016\/j.jaci.2016.03.016","article-title":"Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: successful hematopoietic stem cell transplantation","volume":"138","author":"Hsu","year":"2016","journal-title":"J Allergy Clin Immunol."},{"key":"B49","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1016\/j.jaci.2015.07.053","article-title":"IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation","volume":"137","author":"Fellmann","year":"2016","journal-title":"J Allergy Clin Immunol."},{"key":"B50","doi-asserted-by":"crossref","first-page":"3615","DOI":"10.1182\/blood.V126.23.3615.3615","article-title":"Adenosine deaminase 2 deficiency as a cause of pure red cell aplasia mimicking diamond blackfan anemia","volume":"126","author":"Sasa","year":"2015","journal-title":"Blood"},{"key":"B51","doi-asserted-by":"publisher","first-page":"1532","DOI":"10.3899\/jrheum.150024","article-title":"A case series of adenosine deaminase 2-deficient patients emphasizing treatment and genotype-phenotype correlations","volume":"42","author":"Batu","year":"2015","journal-title":"J Rheumatol."},{"key":"B52","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1186\/s12969-017-0193-x","article-title":"Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation","volume":"15","author":"Skrabl-Baumgartner","year":"2017","journal-title":"Pediatr Rheumatol Online J."},{"key":"B53","doi-asserted-by":"publisher","first-page":"e000236","DOI":"10.1136\/rmdopen-2015-000236","article-title":"ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters","volume":"2","author":"Uettwiller","year":"2016","journal-title":"RMD Open"},{"key":"B54","doi-asserted-by":"publisher","first-page":"1534","DOI":"10.1016\/j.jaci.2018.01.012","article-title":"ADA2 deficiency: clonal lymphoproliferation in a subset of patients","volume":"141","author":"Trotta","year":"2018","journal-title":"J Allergy Clin Immunol."},{"key":"B55","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1038\/s41431-018-0130-6","article-title":"A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience","volume":"26","author":"Rama","year":"2018","journal-title":"Eur J Hum Genet."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2018.00282\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,27]],"date-time":"2019-10-27T03:03:49Z","timestamp":1572145429000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2018.00282\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,18]]},"references-count":55,"alternative-id":["10.3389\/fped.2018.00282"],"URL":"https:\/\/doi.org\/10.3389\/fped.2018.00282","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,18]]},"article-number":"282"}}