{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:11:45Z","timestamp":1787166705029,"version":"build-2736575974"},"reference-count":32,"publisher":"PAGEPress Publications","issue":"3","license":[{"start":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T00:00:00Z","timestamp":1694995200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reumatismo"],"abstract":"<jats:p>Adenosine deaminase 2 deficiency (DADA2) is a rare monogenic vasculopathy caused by loss-of-function homozygous or compound heterozygous mutations in ADA2, formerly CECR1 (cat eye syndrome chromosome region 1) gene. The DADA2 phenotype is widely heterogeneous, and patients may present with fever, weight loss, livedo reticularis\/racemosa, digital ischemia, cutaneous ulceration, peripheral neuropathy, abdominal pain, bowel perforation, and portal or nephrogenic hypertension. More specific manifestations include early-onset ischemic or hemorrhagic stroke, mild immunodeficiency and hypogammaglobinemia, cytopenia, and vision disturbances. Herein, we present the case of a young male with vasculitis associated with DADA2. The presence of HLA-B51 and the clinical features of this patient raised the question of similarities between ADA2 deficiency, Beh\u00e7et\u2019s disease, and NOD2-associated diseases. Treatment of this rare monogenic disease is challenging and based on small case series. The long-term experience of this patient proved the difficulties of prednisone tapering and the lack of satisfactory therapeutic strategies.<\/jats:p>","DOI":"10.4081\/reumatismo.2023.1578","type":"journal-article","created":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T05:49:19Z","timestamp":1695016159000},"source":"Crossref","is-referenced-by-count":3,"title":["Vasculitis associated with adenosine deaminase 2 deficiency: at the crossroads between Beh\u00e7et\u2019s disease and autoinflammation. A viewpoint"],"prefix":"10.4081","volume":"75","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-1934-4557","authenticated-orcid":false,"given":"A.","family":"Colangelo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-2805-9313","authenticated-orcid":false,"given":"F.","family":"Tromby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1774-1916","authenticated-orcid":false,"given":"G.","family":"Cafaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Gerli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4776-2136","authenticated-orcid":false,"given":"E.","family":"Bartoloni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4771-6981","authenticated-orcid":false,"given":"C.","family":"Perricone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2549","published-online":{"date-parts":[[2023,9,18]]},"reference":[{"key":"5064","doi-asserted-by":"crossref","unstructured":"Navon Elkan 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: 921-31.","DOI":"10.1056\/NEJMoa1307362"},{"key":"5065","doi-asserted-by":"crossref","unstructured":"Keino D, Kondoh K, Kim Y, Sudo A, Ohyama R, Morimotoet M, et al. Successful treatment with cyclosporine and anti-tumour necrosis factor agent for deficiency of adenosine deaminase-2. Scand J Rheumatol 2021; 50: 243-5.","DOI":"10.1080\/03009742.2020.1772868"},{"key":"5066","doi-asserted-by":"crossref","unstructured":"Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialovet AV, et al. Early-onset Stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014; 370: 911-20.","DOI":"10.1056\/NEJMoa1307361"},{"key":"5067","doi-asserted-by":"crossref","unstructured":"Tanatar A, Karada\u011f \u015eG, S\u00f6zeri B, S\u00f6nmez HE, \u00c7akan M, Demirkol YK, et al. ADA2 deficiency: case series of five patients with varying phenotypes. J Clin Immunol 2020; 40: 253-8.","DOI":"10.1007\/s10875-019-00734-0"},{"key":"5068","doi-asserted-by":"crossref","unstructured":"Conticini E, Sota J, Falsetti P, Lamberti A, Miracco C, Guarnieri A, et al. Biologic drugs in the treatment of polyarteritis nodosa and deficit of adenosine deaminase 2: a narrative review. Autoimmun Rev 2021; 20: 102784.","DOI":"10.1016\/j.autrev.2021.102784"},{"key":"5069","doi-asserted-by":"crossref","unstructured":"Demir S, Sag E, Dedeoglu F, Ozen S. Vasculitis in systemic autoinflammatory diseases. Front Pediatr 2018; 6: 377.","DOI":"10.3389\/fped.2018.00377"},{"key":"5070","doi-asserted-by":"crossref","unstructured":"Rios Scherrer AM, Barreto Rocha V, Campos Garcia L. Beh\u00e7et's disease: review with emphasis on dermatological aspects. An Bras Dermatol 2014; 92: 452-64.","DOI":"10.1590\/abd1806-4841.20177359"},{"key":"5071","doi-asserted-by":"crossref","unstructured":"Skef W, Hamilton MJ, Arayssi T. Gastrointestinal Beh\u00e7et\u2019s disease: a review. World J Gastroenterol 2015; 21: 3801-12.","DOI":"10.3748\/wjg.v21.i13.3801"},{"key":"5072","unstructured":"van Well GTJ, Kant B, van Nistelrooij A, Ekmekci SS, Henriet SV, Hoppenreijset E, et al. Phenotypic variability including Beh\u00e7et\u2019s disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation. Clin Exp Rheumatol 2019; 37: 142-6."},{"key":"5073","doi-asserted-by":"crossref","unstructured":"Jennette JC, Falk RJ, Bacon PA, Basu N, Cid MC, Ferrario F, et al. 2012 revised international chapel hill consensus conference nomenclature of vasculitides. Arthritis Rheum 2013; 65: 1-11.","DOI":"10.1002\/art.37715"},{"key":"5074","doi-asserted-by":"crossref","unstructured":"Caso F, Galozzi P, Costa L, Sfriso P, Cantarini L, Punzi L. Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn\u2019s disease. 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