{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:34:47Z","timestamp":1785803687135,"version":"3.56.0"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,12,22]],"date-time":"2017-12-22T00:00:00Z","timestamp":1513900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adenosine deaminase\u20102 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. Classic presentation includes livedo reticularis, vasculitis, and stroke. However, the phenotype and disease severity are variable. We present a 5\u2010year\u2010old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2. Exome sequencing identified a novel homozygous splicing variant in <jats:italic>ADA2<\/jats:italic> c.882\u20102A\u00a0&gt;\u00a0G. Patient responded to anti\u2010 tumor necrosis factor medication and is in complete remission. Hematologists should be aware of various hematological presentations of DADA2, including ALPS\u2010like disorder, that might lack vasculitis and livedo reticularis to prevent delay in initiating optimal therapy.<\/jats:p>","DOI":"10.1002\/pbc.26912","type":"journal-article","created":{"date-parts":[[2017,12,24]],"date-time":"2017-12-24T08:10:27Z","timestamp":1514103027000},"source":"Crossref","is-referenced-by-count":41,"title":["Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5577-3228","authenticated-orcid":false,"given":"Abdulrahman","family":"Alsultan","sequence":"first","affiliation":[{"name":"Department of Pediatrics College of Medicine King Saud University  Riyadh Saudi Arabia"},{"name":"Department of Pediatric Hematology\/Oncology King Abdullah Specialist Children's Hospital and King Abdulaziz Medical City Ministry of National Guard Health Affairs  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enas","family":"Basher","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology\/Oncology King Abdullah Specialist Children's Hospital and King Abdulaziz Medical City Ministry of National Guard Health Affairs  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jubran","family":"Alqanatish","sequence":"additional","affiliation":[{"name":"Department of Pediatrics King Abdullah Specialist Children's Hospital and King Abdulaziz Medical City Ministry of National Guard Health Affairs  Riyadh Saudi Arabia"},{"name":"King Saud bin Abdulaziz University for Health Sciences  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reem","family":"Mohammed","sequence":"additional","affiliation":[{"name":"Department of Pediatrics King Abdullah Specialist Children's Hospital and King Abdulaziz Medical City Ministry of National Guard Health Affairs  Riyadh Saudi Arabia"},{"name":"King Saud bin Abdulaziz University for Health Sciences  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Alfadhel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics King Abdullah Specialist Children's Hospital and King Abdulaziz Medical City Ministry of National Guard Health Affairs  Riyadh Saudi Arabia"},{"name":"King Saud bin Abdulaziz University for Health Sciences  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1307361"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1307362"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20050683"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.083527"},{"issue":"1","key":"e_1_2_7_6_1","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 R","year":"2016","journal-title":"Pediatr Rheumatol Online J"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1189\/jlb.1109764"},{"issue":"5","key":"e_1_2_7_8_1","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1056\/NEJMc1405506","article-title":"Mutant ADA2 in vasculopathies","volume":"371","author":"Montfrans J","year":"2014","journal-title":"N Engl J Med"},{"issue":"5","key":"e_1_2_7_9_1","first-page":"480","article-title":"Mutant ADA2 in vasculopathies","volume":"371","author":"Eyck L","year":"2014","journal-title":"N Engl J Med"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1546-0096-12-44"},{"issue":"20","key":"e_1_2_7_11_1","doi-asserted-by":"crossref","first-page":"2092","DOI":"10.1212\/WNL.0000000000001581","article-title":"Unexplained early\u2010onset lacunar stroke and inflammatory skin lesions. Consider ADA2 deficiency","volume":"84","author":"Westendorp WF","year":"2015","journal-title":"Neurology"},{"key":"e_1_2_7_12_1","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1097\/MPH.0000000000000805","article-title":"Refractory pure red cell aplasia manifesting as deficiency of adenosine deaminase 2","volume":"39","author":"Hashem H","year":"2017","journal-title":"J Pediatr Hematol Oncol"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-016-0245-x"},{"issue":"5","key":"e_1_2_7_14_1","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1056\/NEJMc1405506","article-title":"Mutant ADA2 in vasculopathies","volume":"371","author":"Bras J","year":"2014","journal-title":"N Engl J Med"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-04-280347"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-014-2320-8"},{"key":"e_1_2_7_17_1","article-title":"Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency","author":"Sahin S","year":"2017","journal-title":"Rheumatol Int"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/rmdopen-2015-000236"},{"issue":"5","key":"e_1_2_7_19_1","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":"Montfrans JM","year":"2016","journal-title":"Rheumatology (Oxford)"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1546-0096-13-S1-O40"},{"issue":"5","key":"e_1_2_7_21_1","first-page":"480","article-title":"Mutant ADA2 in vasculopathies","volume":"371","author":"Eyck L","year":"2014","journal-title":"N Engl J Med"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2017.173"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.39699"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.40147"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.26912","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.26912","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T08:45:38Z","timestamp":1695631538000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.26912"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,22]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["10.1002\/pbc.26912"],"URL":"https:\/\/doi.org\/10.1002\/pbc.26912","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,22]]},"article-number":"e26912"}}