{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T02:21:57Z","timestamp":1792290117017,"version":"4.4.0"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,11,24]],"date-time":"2024-11-24T00:00:00Z","timestamp":1732406400000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder caused by loss of function mutations in the ADA2 gene (previously the CECR1 gene) on chromosome 22q11. The clinical spectrum of the disease is remarkably broad, and its presentations mimic features of polyarteritis nodosa, such as livedoid rash, hematological abnormalities (e.g., cytopenia), early\u2010onset stroke, hypogammaglobulinemia, and systemic inflammation. Early diagnosis and treatment of DADA2 are crucial, as the clinical features could be potentially life\u2010threatening but treatable. In this study, a 17\u2010year\u2010old male patient is reported with DADA2 whose symptoms mimic those of polyarteritis nodosa. A 17\u2010year\u2010old male patient presented with a 14\u2010year history of abdominal pain, hypertension, and cutaneous lesions initially attributed to polyarteritis nodosa (PAN). He was referred to our center due to ongoing abdominal pain. An abdominal and pelvic computed tomography scan with contrast revealed a retroperitoneal hemorrhage compressing the left kidney. Given his history of abdominal pain, hypertension, hemiparesis, transient ischemic attacks (TIA), anemia, cutaneous lesions, and retroperitoneal hemorrhage, DADA2 was suspected, and a genetic test confirmed the diagnosis. Treatment with anti\u2010TNF (Adalimumab) was initiated, resulting in noticeable improvement. In the follow up, fever, abdominal pain and TIA episodes were subsided and now he has a good clinical condition. Considering DADA2 and conducting a broad screening for other manifestations is recommended for patients presenting with PAN\u2010like symptoms. These patients may become symptomatic later in life, and early diagnosis allows for the consideration of disease\u2010specific treatment options.<\/jats:p>","DOI":"10.1002\/ccr3.9641","type":"journal-article","created":{"date-parts":[[2024,11,25]],"date-time":"2024-11-25T01:39:54Z","timestamp":1732498794000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Misdiagnosed for 14\u2009Years: Adenosine Deaminase 2 (\n                    <scp>ADA2<\/scp>\n                    ) Deficiency in a Teen Mimicking Polyarteritis Nodosa"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3772-0349","authenticated-orcid":false,"given":"Mohammadkian","family":"Zarafshani","sequence":"first","affiliation":[{"name":"Rheumatology Research Center, Shariati Hospital Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masoume","family":"Avateffazeli","sequence":"additional","affiliation":[{"name":"Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed Masoud Moeini","family":"Taba","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, School of Medicine, Shahid Beheshti Hospital Kashan University of Medical Sciences  Kashan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reihaneh","family":"Faghihi","sequence":"additional","affiliation":[{"name":"Department of Radiology Kashan University of Medical Sciences  Kashan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara Beikmohamadi","family":"Hezaveh","sequence":"additional","affiliation":[{"name":"Department of Neurology Arak University of Medical Sciences  Arak Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4648-3573","authenticated-orcid":false,"given":"Vahid","family":"Ziaee","sequence":"additional","affiliation":[{"name":"Pediatric Rheumatology Society of Iran  Tehran Iran"},{"name":"Children's Medical Center, Pediatrics Center of Excellence  Tehran Iran"},{"name":"Department of Pediatrics Tehran University of Medical Sciences  Tehran Iran"},{"name":"Pediatric Rheumatology Research Group, Rheumatology Research Center Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Tahghighi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rheumatology, Children's Medical Center Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1729-3028","authenticated-orcid":false,"given":"Maryam","family":"Loghman","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Autoimmune Disease Research Center, Beheshti Hospital Kashan University of Medical Sciences  Kashan 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