{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:34:50Z","timestamp":1785803690479,"version":"3.56.0"},"reference-count":62,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","theclinics.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Rheumatic Disease Clinics of North America"],"published-print":{"date-parts":[[2023,11]]},"DOI":"10.1016\/j.rdc.2023.06.004","type":"journal-article","created":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T16:08:09Z","timestamp":1690906089000},"page":"773-787","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Deficiency of Adenosine Deaminase 2"],"prefix":"10.1016","volume":"49","author":[{"given":"Andrew","family":"Grim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keila R.","family":"Veiga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Saad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.rdc.2023.06.004_bib1","doi-asserted-by":"crossref","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\u00a0Engl J Med"},{"issue":"10","key":"10.1016\/j.rdc.2023.06.004_bib2","doi-asserted-by":"crossref","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\u00a0Engl J Med"},{"issue":"5","key":"10.1016\/j.rdc.2023.06.004_bib3","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s10875-018-0525-8","article-title":"Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment","volume":"38","author":"Meyts","year":"2018","journal-title":"J\u00a0Clin Immunol"},{"issue":"7","key":"10.1016\/j.rdc.2023.06.004_bib4","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1007\/s10875-017-0433-3","article-title":"Adenosine deaminase (ADA)-deficient severe combined immune deficiency (SCID): molecular pathogenesis and clinical manifestations","volume":"37","author":"Bradford","year":"2017","journal-title":"J\u00a0Clin Immunol"},{"issue":"7","key":"10.1016\/j.rdc.2023.06.004_bib5","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1001\/jama.2014.9132","article-title":"Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States","volume":"312","author":"Kwan","year":"2014","journal-title":"JAMA"},{"key":"10.1016\/j.rdc.2023.06.004_bib6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0065-2776(04)86001-2","article-title":"Adenosine deaminase deficiency: metabolic basis of immune deficiency and pulmonary inflammation","volume":"86","author":"Blackburn","year":"2005","journal-title":"Adv Immunol"},{"key":"10.1016\/j.rdc.2023.06.004_bib7","doi-asserted-by":"crossref","first-page":"935957","DOI":"10.3389\/fimmu.2022.935957","article-title":"Adenosine deaminase 2 deficiency (DADA2): a crosstalk between innate and adaptive immunity","volume":"13","author":"Signa","year":"2022","journal-title":"Front Immunol"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib8","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/s13023-018-0807-5","article-title":"Adenosine deaminase deficiency: a review","volume":"13","author":"Flinn","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/10409238.2020.1832438","article-title":"Human de novo purine biosynthesis","volume":"56","author":"Pareek","year":"2021","journal-title":"Crit Rev Biochem Mol Biol"},{"issue":"2","key":"10.1016\/j.rdc.2023.06.004_bib10","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.tibs.2016.09.009","article-title":"A\u00a0new view into the regulation of purine metabolism: the purinosome","volume":"42","author":"Pedley","year":"2017","journal-title":"Trends Biochem Sci"},{"issue":"Pt 1","key":"10.1016\/j.rdc.2023.06.004_bib11","doi-asserted-by":"crossref","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"},{"issue":"5","key":"10.1016\/j.rdc.2023.06.004_bib12","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1016\/j.jaci.2021.10.030","article-title":"TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2)","volume":"149","author":"Deuitch","year":"2022","journal-title":"J\u00a0Allergy Clin Immunol"},{"issue":"8","key":"10.1016\/j.rdc.2023.06.004_bib13","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1007\/s10875-021-01141-0","article-title":"Intrinsic defects in B cell development and differentiation, T\u00a0cell exhaustion and altered unconventional T\u00a0cell generation characterize human adenosine deaminase type 2 deficiency","volume":"41","author":"Yap","year":"2021","journal-title":"J\u00a0Clin Immunol"},{"issue":"2","key":"10.1016\/j.rdc.2023.06.004_bib14","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1016\/j.jaci.2021.01.018","article-title":"Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation","volume":"148","author":"Nihira","year":"2021","journal-title":"J\u00a0Allergy Clin Immunol"},{"issue":"5","key":"10.1016\/j.rdc.2023.06.004_bib15","doi-asserted-by":"crossref","first-page":"523","DOI":"10.3899\/jrheum.180045","article-title":"Variable clinical phenotypes and relation of interferon signature with disease activity in ADA2 deficiency","volume":"46","author":"Insalaco","year":"2019","journal-title":"J\u00a0Rheumatol"},{"key":"10.1016\/j.rdc.2023.06.004_bib16","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/1546-0096-12-44","article-title":"Mutations in CECR1 associated with a neutrophil signature in peripheral blood","volume":"12","author":"Belot","year":"2014","journal-title":"Pediatr Rheumatol Online J"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib17","doi-asserted-by":"crossref","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"},{"issue":"3","key":"10.1016\/j.rdc.2023.06.004_bib18","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/JLB.3HI0220-119RR","article-title":"Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes","volume":"110","author":"Watanabe","year":"2021","journal-title":"J\u00a0Leukoc Biol"},{"issue":"4","key":"10.1016\/j.rdc.2023.06.004_bib19","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1182\/blood.2018892752","article-title":"Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2","volume":"134","author":"Carmona-Rivera","year":"2019","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib20","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/eji.202048549","article-title":"Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients","volume":"51","author":"Schena","year":"2021","journal-title":"Eur J Immunol"},{"issue":"1\u20132","key":"10.1016\/j.rdc.2023.06.004_bib21","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/S0378-1119(01)00762-4","article-title":"Characterization of the adenosine deaminase-related growth factor (ADGF) gene family in Drosophila","volume":"280","author":"Maier","year":"2001","journal-title":"Gene"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib22","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0378-1119(01)00393-6","article-title":"The invertebrate growth factor\/CECR1 subfamily of adenosine deaminase proteins","volume":"267","author":"Charlab","year":"2001","journal-title":"Gene"},{"issue":"7","key":"10.1016\/j.rdc.2023.06.004_bib23","doi-asserted-by":"crossref","first-page":"e201","DOI":"10.1371\/journal.pbio.0030201","article-title":"A\u00a0role for adenosine deaminase in Drosophila larval development","volume":"3","author":"Dolezal","year":"2005","journal-title":"PLoS Biol"},{"issue":"7","key":"10.1016\/j.rdc.2023.06.004_bib24","doi-asserted-by":"crossref","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 U\u00a0S\u00a0A"},{"issue":"16","key":"10.1016\/j.rdc.2023.06.004_bib25","doi-asserted-by":"crossref","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\u00a0Biol Chem"},{"issue":"3","key":"10.1016\/j.rdc.2023.06.004_bib26","doi-asserted-by":"crossref","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"},{"issue":"2","key":"10.1016\/j.rdc.2023.06.004_bib27","doi-asserted-by":"crossref","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\u00a0Leukoc Biol"},{"key":"10.1016\/j.rdc.2023.06.004_bib28","doi-asserted-by":"crossref","first-page":"108411","DOI":"10.1016\/j.clim.2020.108411","article-title":"Polyarteritis nodosa and deficiency of adenosine deaminase 2 - Shared genealogy, generations apart","volume":"215","author":"Huang","year":"2020","journal-title":"Clin Immunol"},{"issue":"6","key":"10.1016\/j.rdc.2023.06.004_bib29","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1007\/s10875-020-00817-3","article-title":"Deficiency of adenosine deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance","volume":"40","author":"Schnappauf","year":"2020","journal-title":"J\u00a0Clin Immunol"},{"key":"10.1016\/j.rdc.2023.06.004_bib30","unstructured":"Infevers: an online database for autoinflammatory mutations. Copyright. Available at: https:\/\/infevers.umai-montpellier.fr\/. Accessed: March 2023."},{"issue":"10","key":"10.1016\/j.rdc.2023.06.004_bib31","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1136\/annrheumdis-2016-210802","article-title":"ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study","volume":"76","author":"Caorsi","year":"2017","journal-title":"Ann Rheum Dis"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib32","doi-asserted-by":"crossref","first-page":"117","DOI":"10.3899\/jrheum.181384","article-title":"A\u00a0monogenic disease with a variety of phenotypes: deficiency of adenosine deaminase 2","volume":"47","author":"\u00d6zen","year":"2020","journal-title":"J\u00a0Rheumatol"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib33","first-page":"254","article-title":"Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey","volume":"59","author":"Kisla Ekinci","year":"2020","journal-title":"Rheumatology"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib34","doi-asserted-by":"crossref","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"},{"issue":"5","key":"10.1016\/j.rdc.2023.06.004_bib35","doi-asserted-by":"crossref","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"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib36","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.jaci.2021.04.034","article-title":"Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach","volume":"149","author":"Jee","year":"2022","journal-title":"J\u00a0Allergy Clin Immunol"},{"issue":"6","key":"10.1016\/j.rdc.2023.06.004_bib37","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1016\/j.jaci.2019.12.908","article-title":"Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)","volume":"145","author":"Lee","year":"2020","journal-title":"J\u00a0Allergy Clin Immunol"},{"key":"10.1016\/j.rdc.2023.06.004_bib38","doi-asserted-by":"crossref","first-page":"282","DOI":"10.3389\/fped.2018.00282","article-title":"Vasculopathy, immunodeficiency, and bone marrow failure: the intriguing syndrome caused by deficiency of adenosine deaminase 2","volume":"6","author":"Lee","year":"2018","journal-title":"Front Pediatr"},{"issue":"2","key":"10.1016\/j.rdc.2023.06.004_bib39","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/art.41500","article-title":"Deficiency of adenosine deaminase 2 in adults and children: experience from India","volume":"73","author":"Sharma","year":"2021","journal-title":"Arthritis Rheumatol"},{"key":"10.1016\/j.rdc.2023.06.004_bib40","doi-asserted-by":"crossref","first-page":"811473","DOI":"10.3389\/fimmu.2021.811473","article-title":"The spectrum of the deficiency of adenosine deaminase 2: an observational analysis of a 60 patient cohort","volume":"12","author":"Barron","year":"2022","journal-title":"Front Immunol"},{"issue":"11","key":"10.1016\/j.rdc.2023.06.004_bib41","doi-asserted-by":"crossref","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"},{"issue":"6","key":"10.1016\/j.rdc.2023.06.004_bib42","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1016\/j.jaad.2020.03.110","article-title":"Clinical and pathological dermatological features of deficiency of adenosine deaminase 2: a multicenter, retrospective, observational study","volume":"83","author":"Chasset","year":"2020","journal-title":"J\u00a0Am Acad Dermatol"},{"issue":"5","key":"10.1016\/j.rdc.2023.06.004_bib43","doi-asserted-by":"crossref","first-page":"975","DOI":"10.3174\/ajnr.A7019","article-title":"Widening the neuroimaging features of adenosine deaminase 2 deficiency","volume":"42","author":"Geraldo","year":"2021","journal-title":"AJNR Am J Neuroradiol"},{"issue":"4","key":"10.1016\/j.rdc.2023.06.004_bib44","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1016\/j.jaci.2018.05.038","article-title":"Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2","volume":"142","author":"Lee","year":"2018","journal-title":"J\u00a0Allergy Clin Immunol"},{"issue":"10","key":"10.1016\/j.rdc.2023.06.004_bib45","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1002\/art.40913","article-title":"Identification of novel adenosine deaminase 2 gene variants and varied clinical phenotype in pediatric vasculitis","volume":"71","author":"Gibson","year":"2019","journal-title":"Arthritis Rheumatol"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib46","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/s00296-019-04444-z","article-title":"The same mutation in a family with adenosine deaminase 2 deficiency","volume":"41","author":"Sozeri","year":"2021","journal-title":"Rheumatol Int"},{"issue":"8","key":"10.1016\/j.rdc.2023.06.004_bib47","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.3899\/jrheum.180820","article-title":"Thirty years of followup in 3 patients with familial polyarteritis nodosa due to adenosine deaminase 2 deficiency","volume":"46","author":"Liebowitz","year":"2019","journal-title":"J\u00a0Rheumatol"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib48","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s12969-019-0334-5","article-title":"Testicular ischemia in deficiency of adenosine deaminase 2 (DADA2)","volume":"17","author":"Clarke","year":"2019","journal-title":"Pediatr Rheumatol Online J"},{"issue":"2","key":"10.1016\/j.rdc.2023.06.004_bib49","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s10875-019-00734-0","article-title":"ADA2 deficiency: case series of five patients with varying phenotypes","volume":"40","author":"Tanatar","year":"2020","journal-title":"J\u00a0Clin Immunol"},{"issue":"3","key":"10.1016\/j.rdc.2023.06.004_bib50","first-page":"193","article-title":"Deficiency of adenosine deaminase 2; special focus on central nervous system imaging","volume":"46","author":"Bulut","year":"2019","journal-title":"J\u00a0Neuroradiol"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib51","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/imr.12722","article-title":"Human adenosine deaminase 2 deficiency: a multi-faceted inborn error of immunity","volume":"287","author":"Moens","year":"2019","journal-title":"Immunol Rev"},{"issue":"10","key":"10.1016\/j.rdc.2023.06.004_bib52","doi-asserted-by":"crossref","first-page":"3883","DOI":"10.1007\/s10067-021-05711-w","article-title":"Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment","volume":"40","author":"Pinto","year":"2021","journal-title":"Clin Rheumatol"},{"issue":"10","key":"10.1016\/j.rdc.2023.06.004_bib53","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1007\/s11926-020-00944-1","article-title":"The many faces of a monogenic autoinflammatory disease: adenosine deaminase 2 deficiency","volume":"22","author":"Kendall","year":"2020","journal-title":"Curr Rheumatol Rep"},{"issue":"8","key":"10.1016\/j.rdc.2023.06.004_bib54","doi-asserted-by":"crossref","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"},{"issue":"8","key":"10.1016\/j.rdc.2023.06.004_bib55","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1007\/s10875-018-0565-0","article-title":"Warts and DADA2: a mere coincidence?","volume":"38","author":"Arts","year":"2018","journal-title":"J\u00a0Clin Immunol"},{"key":"10.1016\/j.rdc.2023.06.004_bib56","doi-asserted-by":"crossref","first-page":"932385","DOI":"10.3389\/fimmu.2022.932385","article-title":"Allogeneic hematopoietic cell transplantation for patients with deficiency of adenosine deaminase 2 (DADA2): approaches, obstacles and special considerations","volume":"13","author":"Hashem","year":"2022","journal-title":"Front Immunol"},{"issue":"7","key":"10.1016\/j.rdc.2023.06.004_bib57","doi-asserted-by":"crossref","first-page":"1633","DOI":"10.1007\/s10875-021-01098-0","article-title":"Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients","volume":"41","author":"Hashem","year":"2021","journal-title":"J\u00a0Clin Immunol"},{"issue":"6","key":"10.1016\/j.rdc.2023.06.004_bib58","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1007\/s00431-014-2320-8","article-title":"Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy","volume":"173","author":"Garg","year":"2014","journal-title":"Eur J Pediatr"},{"issue":"5","key":"10.1016\/j.rdc.2023.06.004_bib59","doi-asserted-by":"crossref","first-page":"e20180948","DOI":"10.1542\/peds.2018-0948","article-title":"Renal amyloidosis in deficiency of adenosine deaminase 2: successful experience with canakinumab","volume":"142","author":"Kisla Ekinci","year":"2018","journal-title":"Pediatrics"},{"issue":"1","key":"10.1016\/j.rdc.2023.06.004_bib60","doi-asserted-by":"crossref","first-page":"97","DOI":"10.21037\/tp-22-261","article-title":"ADA2 deficiency (DADA2) misdiagnosed as systemic onset juvenile idiopathic arthritis in a child carrying a novel compound heterozygous ADA2 mutation: a case report","volume":"12","author":"Yin","year":"2023","journal-title":"Transl Pediatr"},{"issue":"6","key":"10.1016\/j.rdc.2023.06.004_bib61","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1084\/jem.177.6.1675","article-title":"Thalidomide exerts its inhibitory action on tumor necrosis factor alpha by enhancing mRNA degradation","volume":"177","author":"Moreira","year":"1993","journal-title":"J\u00a0Exp Med"},{"key":"10.1016\/j.rdc.2023.06.004_bib62","doi-asserted-by":"crossref","first-page":"885893","DOI":"10.3389\/fped.2022.885893","article-title":"The growing spectrum of DADA2 manifestations-diagnostic and therapeutic challenges revisited","volume":"10","author":"Escherich","year":"2022","journal-title":"Front Pediatr"}],"container-title":["Rheumatic Disease Clinics of North America"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0889857X23000649?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0889857X23000649?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T11:31:55Z","timestamp":1760182315000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0889857X23000649"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":62,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["S0889857X23000649"],"URL":"https:\/\/doi.org\/10.1016\/j.rdc.2023.06.004","relation":{},"ISSN":["0889-857X"],"issn-type":[{"value":"0889-857X","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Deficiency of Adenosine Deaminase 2","name":"articletitle","label":"Article Title"},{"value":"Rheumatic Disease Clinics of North America","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.rdc.2023.06.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}