{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T20:58:38Z","timestamp":1794344318605,"version":"4.9.0"},"reference-count":0,"publisher":"Termedia Sp. z.o.o.","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reumatologia"],"abstract":"<jats:p>Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive that was first described in 2014. It is a monogenic disease that is caused by loss-of-function variants in the ADA2 gene. DADA2 involves small- and medium-sized vessels and its clinical presentations include polyarteritis nodosa (PAN)-like features such as livedoid rash, early-onset stroke, hypogammaglobulinemia, hematological abnormalities, and systemic inflammation. Early diagnosis and treatment of DADA2 are crucial as the clinical features could be potentially life-threatening but might be treatable. The first-line treatment of choice in DADA2 is tumor necrosis factor (TNF)-inhibitors. We aimed to give an overview of the known pathophysiology, clinical presentations, diagnosis, and treatment of DADA2. A clearer knowledge of DADA2 may help to better diagnose, manage, and improve the clinical outcome of DADA2 patients. However, further studies are required to investigate the genotype-phenotype associations and exact pathophysiology of DADA2.<\/jats:p>","DOI":"10.5114\/reum.2023.124878","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T09:57:51Z","timestamp":1678355871000},"page":"45-54","source":"Crossref","is-referenced-by-count":5,"title":["Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa"],"prefix":"10.5114","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5091-5191","authenticated-orcid":false,"given":"Shakiba","family":"Hassanzadeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7106-9799","authenticated-orcid":false,"given":"Mohammad","family":"Bahadoram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7994-7197","authenticated-orcid":false,"given":"Karim","family":"Mowla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3061","published-online":{"date-parts":[[2023,3,8]]},"container-title":["Rheumatology"],"original-title":[],"link":[{"URL":"https:\/\/reu.termedia.pl\/pdf-152721-88179","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/reu.termedia.pl\/pdf-152721-88179","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T09:57:51Z","timestamp":1678355871000},"score":1,"resource":{"primary":{"URL":"https:\/\/reu.termedia.pl\/Deficiency-of-adenosine-deaminase-2-a-challenging-differential-diagnosis-of-polyarteritis,152721,0,2.html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,8]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023]]}},"alternative-id":["152721"],"URL":"https:\/\/doi.org\/10.5114\/reum.2023.124878","relation":{},"ISSN":["0034-6233","2084-9834"],"issn-type":[{"value":"0034-6233","type":"print"},{"value":"2084-9834","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,8]]}}}