{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:34:49Z","timestamp":1785803689751,"version":"3.56.0"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T00:00:00Z","timestamp":1627516800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T00:00:00Z","timestamp":1627516800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["Cancer Research Center"],"award-info":[{"award-number":["Cancer Research Center"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["Intramural Research Program"],"award-info":[{"award-number":["Intramural Research Program"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000282","name":"Sir Jules Thorn Charitable Trust","doi-asserted-by":"publisher","award":["12\/JTA"],"award-info":[{"award-number":["12\/JTA"]}],"id":[{"id":"10.13039\/501100000282","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["207556_Z_17_Z"],"award-info":[{"award-number":["207556_Z_17_Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["11F4421N"],"award-info":[{"award-number":["11F4421N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["Senior Clinical Investigator"],"award-info":[{"award-number":["Senior Clinical Investigator"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["G0C8517N, G0B5120N, G0E8420N"],"award-info":[{"award-number":["G0C8517N, G0B5120N, G0E8420N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003011","name":"Immune Deficiency Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003011","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007184","name":"Yale School of Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007184","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004497","name":"Onderzoeksraad, KU Leuven","doi-asserted-by":"publisher","award":["C16\/18\/007"],"award-info":[{"award-number":["C16\/18\/007"]}],"id":[{"id":"10.13039\/501100004497","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001245","name":"Jeffrey Modell Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008322","name":"CSL Behring","doi-asserted-by":"publisher","award":["Chair in Primary Immunodeficiencies, KU Leuven"],"award-info":[{"award-number":["Chair in Primary Immunodeficiencies, KU Leuven"]}],"id":[{"id":"10.13039\/100008322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["948959; MORE2ADA2; EU Horizon 2020"],"award-info":[{"award-number":["948959; MORE2ADA2; EU Horizon 2020"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Purpose<\/jats:title>\n                <jats:p>Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrhages), immunodeficiency, lymphoproliferation, immune cytopenias, and bone marrow failure (BMF). Tumor necrosis factor (TNF-\u03b1) blockade is the treatment of choice for the vasculopathy, but often fails to reverse refractory cytopenia. We aimed to study the outcome of hematopoietic cell transplantation (HCT) in patients with DADA2.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We conducted a retrospective study on the outcome of HCT in patients with DADA2. The primary outcome was overall survival (OS).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Thirty DADA2 patients from 12 countries received a total of 38 HCTs. The indications for HCT were BMF, immune cytopenia, malignancy, or immunodeficiency. Median age at HCT was 9\u00a0years (range: 2\u201328\u00a0years). The conditioning regimens for the final transplants were myeloablative (<jats:italic>n<\/jats:italic>\u2009=\u200920), reduced intensity (<jats:italic>n<\/jats:italic>\u2009=\u20098), or non-myeloablative (<jats:italic>n<\/jats:italic>\u2009=\u20092). Donors were HLA-matched related (<jats:italic>n<\/jats:italic>\u2009=\u20094), HLA-matched unrelated (<jats:italic>n<\/jats:italic>\u2009=\u200916), HLA-haploidentical (<jats:italic>n<\/jats:italic>\u2009=\u20092), or HLA-mismatched unrelated (<jats:italic>n<\/jats:italic>\u2009=\u20098). After a median follow-up of 2\u00a0years (range: 0.5\u201316\u00a0years), 2-year OS was 97%, and 2-year GvHD-free relapse-free survival was 73%. The hematological and immunological phenotypes resolved, and there were no new vascular events. Plasma ADA2 enzyme activity normalized in 16\/17 patients tested. Six patients required more than one HCT.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>HCT was an effective treatment for DADA2, successfully reversing the refractory cytopenia, as well as the vasculopathy and immunodeficiency.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Clinical Implications<\/jats:title>\n                <jats:p>HCT is a definitive cure for DADA2 with\u2009&gt;\u200995% survival.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10875-021-01098-0","type":"journal-article","created":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T10:03:40Z","timestamp":1627553020000},"page":"1633-1647","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":73,"title":["Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients"],"prefix":"10.1007","volume":"41","author":[{"given":"Hasan","family":"Hashem","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Bucciol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seza","family":"Ozen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sule","family":"Unal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikbal Ok","family":"Bozkaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurten","family":"Akarsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mervi","family":"Taskinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna","family":"Koskenvuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janna","family":"Saarela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimana","family":"Dimitrova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis D.","family":"Hickstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy P.","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven M.","family":"Holland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Krance","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghadir","family":"Sasa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashish R.","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingo","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica Abreu","family":"de Sousa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selket","family":"Delafontaine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leen","family":"Moens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Babor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Barzaghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Pia","family":"Cicalese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robbert","family":"Bredius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris","family":"van Montfrans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Baretta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Cesaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polina","family":"Stepensky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neven","family":"Benedicte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Despina","family":"Moshous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Le Guenno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Boutboul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jignesh","family":"Dalal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel P.","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif","family":"Dokmeci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmeen","family":"Dara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie L.","family":"Lucas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Hambleton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Jolles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yener","family":"Koc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayfun","family":"G\u00fcng\u00f6r","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Schnider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Candotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Steinmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ansgar","family":"Schulz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chip","family":"Chambers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Hershfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Ombrello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A.","family":"Kanakry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1214-0302","authenticated-orcid":false,"given":"Isabelle","family":"Meyts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,29]]},"reference":[{"issue":"10","key":"1098_CR1","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1056\/NEJMoa1307361","volume":"370","author":"Q Zhou","year":"2014","unstructured":"Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911\u201320.","journal-title":"N Engl J Med"},{"issue":"10","key":"1098_CR2","doi-asserted-by":"publisher","first-page":"921","DOI":"10.1056\/NEJMoa1307362","volume":"370","author":"P NavonElkan","year":"2014","unstructured":"NavonElkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370(10):921\u201331.","journal-title":"N Engl J Med"},{"issue":"1","key":"1098_CR3","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1186\/s12969-016-0111-7","volume":"14","author":"R Caorsi","year":"2016","unstructured":"Caorsi R, Penco F, Schena F, Gattorno M. Monogenic polyarteritis: the lesson of ADA2 deficiency. Pediatr Rheumatol Online J. 2016;14(1):51.","journal-title":"Pediatr Rheumatol Online J"},{"issue":"5","key":"1098_CR4","doi-asserted-by":"publisher","first-page":"e293","DOI":"10.1097\/MPH.0000000000000805","volume":"39","author":"H Hashem","year":"2017","unstructured":"Hashem H, Egler R, Dalal J. Refractory pure red cell aplasia manifesting as deficiency of adenosine deaminase 2. J Pediatr Hematol Oncol. 2017;39(5):e293\u20136.","journal-title":"J Pediatr Hematol Oncol"},{"issue":"1","key":"1098_CR5","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1016\/j.jaci.2014.10.010","volume":"135","author":"L Van Eyck Jr","year":"2015","unstructured":"Van Eyck Jr L, Hershfield MS, Pombal D, Kelly SJ, Ganson NJ, Moens L, et al. Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. J Allergy Clin Immunol. 2015;135(1):283-7 e5.","journal-title":"J Allergy Clin Immunol"},{"key":"1098_CR6","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1016\/j.jpeds.2016.06.058","volume":"177","author":"T Ben-Ami","year":"2016","unstructured":"Ben-Ami T, Revel-Vilk S, Brooks R, Shaag A, Hershfield MS, Kelly SJ, et al. Extending the clinical phenotype of adenosine deaminase 2 deficiency. J Pediatr. 2016;177:316\u201320.","journal-title":"J Pediatr"},{"key":"1098_CR7","doi-asserted-by":"crossref","unstructured":"Trotta L, Martelius T, Siitonen T, Hautala T, Hamalainen S, Juntti H, et al. ADA2 deficiency: clonal lymphoproliferation in a subset of patients. J Allergy Clin Immunol. 2018;141(4):1534\u20137.","DOI":"10.1016\/j.jaci.2018.01.012"},{"issue":"1","key":"1098_CR8","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1007\/s10875-019-0590-7","volume":"39","author":"F Alabbas","year":"2019","unstructured":"Alabbas F, Elyamany G, Alsharif O, Hershfield M, Meyts I. Childhood Hodgkin lymphoma: think DADA2. J Clin Immunol. 2019;39(1):26\u20139.","journal-title":"J Clin Immunol"},{"issue":"6","key":"1098_CR9","doi-asserted-by":"publisher","first-page":"948","DOI":"10.1007\/s10875-020-00812-8","volume":"40","author":"T Le Voyer","year":"2020","unstructured":"Le Voyer T, Boutboul D, Ledoux-Pilon A, de Fontbrune FS, Boursier G, Latour S, et al. Late-onset EBV susceptibility and refractory pure red cell aplasia revealing DADA2. J Clin Immunol. 2020;40(6):948\u201353.","journal-title":"J Clin Immunol"},{"issue":"6","key":"1098_CR10","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1007\/s10875-020-00817-3","volume":"40","author":"O Schnappauf","year":"2020","unstructured":"Schnappauf O, Zhou Q, Moura NS, Ombrello AK, Michael DG, Deuitch N, et al. Deficiency of adenosine deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance. J Clin Immunol. 2020;40(6):917\u201326.","journal-title":"J Clin Immunol"},{"issue":"1","key":"1098_CR11","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1038\/nrrheum.2014.158","volume":"11","author":"F Martinon","year":"2015","unstructured":"Martinon F, Aksentijevich I. New players driving inflammation in monogenic autoinflammatory diseases. Nat Rev Rheumatol. 2015;11(1):11\u201320.","journal-title":"Nat Rev Rheumatol"},{"issue":"30","key":"1098_CR12","doi-asserted-by":"publisher","first-page":"eaba3688","DOI":"10.1126\/sciadv.aba3688","volume":"6","author":"R Dhanwani","year":"2020","unstructured":"Dhanwani R, Takahashi M, Mathews IT, Lenzi C, Romanov A, Watrous JD, et al. Cellular sensing of extracellular purine nucleosides triggers an innate IFN-beta response. Sci Adv. 2020;6(30):eaba3688.","journal-title":"Sci Adv."},{"issue":"5","key":"1098_CR13","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1007\/s10875-018-0525-8","volume":"38","author":"I Meyts","year":"2018","unstructured":"Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38(5):569\u201378.","journal-title":"J Clin Immunol"},{"issue":"1","key":"1098_CR14","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1097\/BOR.0000000000000669","volume":"32","author":"S Sahin","year":"2020","unstructured":"Sahin S, Adrovic A, Kasapcopur O. A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2. Curr Opin Rheumatol. 2020;32(1):3\u201314.","journal-title":"Curr Opin Rheumatol"},{"key":"1098_CR15","doi-asserted-by":"crossref","unstructured":"Sharma A, Naidu G, Sharma V, Jha S, Dhooria A, Dhir V, et al. Deficiency of adenosine deaminase 2 (DADA2) in adults and children: experience from India. Arthritis Rheumatol. 2020;73(2):276\u2013285","DOI":"10.1002\/art.41500"},{"key":"1098_CR16","doi-asserted-by":"crossref","unstructured":"Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, et al. Treatment strategies for deficiency of adenosine deaminase 2 N Engl J Med. 2019;380(16):1582\u20134.","DOI":"10.1056\/NEJMc1801927"},{"key":"1098_CR17","doi-asserted-by":"publisher","unstructured":"Cooray S, Omyinmi E, Hong Y, Papadopoulou C, Harper L, Al-Abadi E, et al. Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2). Rheumatology (Oxford). 2021. https:\/\/doi.org\/10.1093\/rheumatology\/keaa837","DOI":"10.1093\/rheumatology\/keaa837"},{"issue":"6","key":"1098_CR18","doi-asserted-by":"publisher","first-page":"1664","DOI":"10.1016\/j.jaci.2019.12.908","volume":"145","author":"PY Lee","year":"2020","unstructured":"Lee PY, Kellner ES, Huang Y, Furutani E, Huang Z, Bainter W, et al. Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2). J Allergy Clin Immunol. 2020;145(6):1664-72 e10.","journal-title":"J Allergy Clin Immunol"},{"issue":"5","key":"1098_CR19","first-page":"480","volume":"371","author":"L Van Eyck","year":"2014","unstructured":"Van Eyck L, Liston A, Wouters C. Mutant ADA2 in vasculopathies. N Engl J Med. 2014;371(5):480.","journal-title":"N Engl J Med"},{"issue":"5","key":"1098_CR20","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1056\/NEJMc1405506","volume":"371","author":"J van Montfrans","year":"2014","unstructured":"van Montfrans J, Zavialov A, Zhou Q. Mutant ADA2 in vasculopathies. N Engl J Med. 2014;371(5):478.","journal-title":"N Engl J Med"},{"issue":"24","key":"1098_CR21","doi-asserted-by":"publisher","first-page":"2682","DOI":"10.1182\/blood-2017-07-798660","volume":"130","author":"H Hashem","year":"2017","unstructured":"Hashem H, Kumar AR, Muller I, Babor F, Bredius R, Dalal J, et al. Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. Blood. 2017;130(24):2682\u20138.","journal-title":"Blood"},{"issue":"1","key":"1098_CR22","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1182\/blood-2016-07-686642","volume":"129","author":"SJ Lee","year":"2017","unstructured":"Lee SJ. Classification systems for chronic graft-versus-host disease. Blood. 2017;129(1):30\u20137.","journal-title":"Blood"},{"key":"1098_CR23","doi-asserted-by":"publisher","first-page":"2767","DOI":"10.3389\/fimmu.2018.02767","volume":"9","author":"F Barzaghi","year":"2018","unstructured":"Barzaghi F, Minniti F, Mauro M, Bortoli M, Balter R, Bonetti E, et al. ALPS-Like phenotype caused by ADA2 deficiency rescued by allogeneic hematopoietic stem cell transplantation. Front Immunol. 2018;9:2767.","journal-title":"Front Immunol"},{"issue":"1","key":"1098_CR24","doi-asserted-by":"publisher","first-page":"117","DOI":"10.3899\/jrheum.181384","volume":"47","author":"S Ozen","year":"2020","unstructured":"Ozen S, Batu ED, Taskiran EZ, Ozkara HA, Unal S, Guleray N, et al. A Monogenic disease with a variety of phenotypes: deficiency of adenosine deaminase 2. J Rheumatol. 2020;47(1):117\u201325.","journal-title":"J Rheumatol"},{"key":"1098_CR25","doi-asserted-by":"crossref","unstructured":"Brooks JP, Rice AJ, Ji W, Lanahan SM, Konstantino M, Dara J, et al. Uncontrolled Epstein-Barr virus as an atypical presentation of deficiency in ADA2 (DADA2). J Clin Immunol. 2021;41(3):680\u20133.","DOI":"10.1007\/s10875-020-00940-1"},{"issue":"5","key":"1098_CR26","doi-asserted-by":"publisher","first-page":"902","DOI":"10.1093\/rheumatology\/kev439","volume":"55","author":"JM Van Montfrans","year":"2016","unstructured":"Van Montfrans JM, Hartman EA, Braun KP, Hennekam EA, Hak EA, Nederkoorn PJ, et al. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. Rheumatology (Oxford). 2016;55(5):902\u201310.","journal-title":"Rheumatology (Oxford)"},{"issue":"2","key":"1098_CR27","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1016\/j.jaci.2016.03.016","volume":"138","author":"AP Hsu","year":"2016","unstructured":"Hsu AP, West RR, Calvo KR, Cuellar-Rodriguez J, Parta M, Kelly SJ, et al. Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: successful hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2016;138(2):628-30 e2.","journal-title":"J Allergy Clin Immunol"},{"issue":"6","key":"1098_CR28","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1111\/j.1469-1809.2010.00609.x","volume":"74","author":"Y Itan","year":"2010","unstructured":"Itan Y, Bryson K, Thomas MG. Detecting gene duplications in the human lineage. Ann Hum Genet. 2010;74(6):555\u201365.","journal-title":"Ann Hum Genet"},{"issue":"8","key":"1098_CR29","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1007\/s10875-017-0449-8","volume":"37","author":"G Bucciol","year":"2017","unstructured":"Bucciol G, Delafontaine S, Segers H, Bossuyt X, Hershfield MS, Moens L, et al. Hematopoietic stem cell transplantation in ADA2 deficiency: early restoration of ADA2 enzyme activity and disease relapse upon drop of donor chimerism. J Clin Immunol. 2017;37(8):746\u201350.","journal-title":"J Clin Immunol"},{"issue":"2","key":"1098_CR30","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1055\/s-2006-939521","volume":"27","author":"PG Gibson","year":"2006","unstructured":"Gibson PG. Allergic bronchopulmonary aspergillosis. Semin Respir Crit Care Med. 2006;27(2):185\u201391.","journal-title":"Semin Respir Crit Care Med"},{"issue":"4","key":"1098_CR31","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1007\/s00251-018-01101-w","volume":"71","author":"L Liu","year":"2019","unstructured":"Liu L, Wang W, Wang Y, Hou J, Ying W, Hui X, et al. A Chinese DADA2 patient: report of two novel mutations and successful HSCT. Immunogenetics. 2019;71(4):299\u2013305.","journal-title":"Immunogenetics"},{"issue":"4","key":"1098_CR32","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1182\/blood.2018892752","volume":"134","author":"C Carmona-Rivera","year":"2019","unstructured":"Carmona-Rivera C, Khaznadar SS, Shwin KW, Irizarry-Caro JA, O\u2019Neil LJ, Liu Y, et al. Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2. Blood. 2019;134(4):395\u2013406.","journal-title":"Blood"},{"issue":"2","key":"1098_CR33","first-page":"238","volume":"29","author":"L Klareskog","year":"2011","unstructured":"Klareskog L, Gaubitz M, Rodriguez-Valverde V, Malaise M, Dougados M, Wajdula J, et al. Assessment of long-term safety and efficacy of etanercept in a 5-year extension study in patients with rheumatoid arthritis. Clin Exp Rheumatol. 2011;29(2):238\u201347.","journal-title":"Clin Exp Rheumatol"}],"updated-by":[{"DOI":"10.1007\/s10875-022-01280-y","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2022,4,30]],"date-time":"2022-04-30T00:00:00Z","timestamp":1651276800000}}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-021-01098-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-021-01098-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-021-01098-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,2]],"date-time":"2022-05-02T13:23:59Z","timestamp":1651497839000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-021-01098-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,29]]},"references-count":33,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["1098"],"URL":"https:\/\/doi.org\/10.1007\/s10875-021-01098-0","relation":{"correction":[{"id-type":"doi","id":"10.1007\/s10875-022-01280-y","asserted-by":"object"}]},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,29]]},"assertion":[{"value":"8 June 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 July 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 July 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 April 2022","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1007\/s10875-022-01280-y","URL":"https:\/\/doi.org\/10.1007\/s10875-022-01280-y","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This retrospective study was approved by the Ethics Committee of Leuven University Hospitals (study number S63982 and S63077) and by individual local Ethics Committees.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Written informed consent was obtained from participants or their guardians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Patients signed informed consent regarding publishing their data.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors have no competing financial interests to declare with respect to this work. IM is holder of CSL-Behring Chair paid to KU Leuven. ARK is a speaker for SOBI. JVM served on an advisory Board for Takeda.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does the mention of trade names, commercial products, or organizations imply endorsement by the US government.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclaimer"}}]}}