{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T04:10:13Z","timestamp":1777349413694,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T00:00:00Z","timestamp":1692662400000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Immunity Inflam &amp;amp; Disease"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss\u2010of\u2010function mutations in ADA2, formerly named <jats:italic>CECR1<\/jats:italic> (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes: inflammatory\/vascular, immune dysregulatory, and hematologic; however, most patients presented with significant overlap between these three phenotype groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>We present a case of DADA2 deficiency with disease onset at 3 years old, not recognized till the age of 18 with severe gastrointestinal vasculitis and recurrent episodes of neutropenia associated with a new CECR1 mutation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/iid3.930","type":"journal-article","created":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T10:40:57Z","timestamp":1692700857000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency"],"prefix":"10.1002","volume":"11","author":[{"given":"Delia","family":"Nicoar\u0103","sequence":"first","affiliation":[{"name":"Sf\u00e2nta Maria Clinical Hospital Bucharest Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Ni\u021b\u0103","sequence":"additional","affiliation":[{"name":"Sf\u00e2nta Maria Clinical Hospital Bucharest Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Stanil\u0103","sequence":"additional","affiliation":[{"name":"Sf\u00e2nta Maria Clinical Hospital Bucharest Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandru","family":"Martiniuc","sequence":"additional","affiliation":[{"name":"Sf\u00e2nta Maria Clinical Hospital Bucharest Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Popa","sequence":"additional","affiliation":[{"name":"Sf\u00e2nta Maria Clinical Hospital Bucharest 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