{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:10:14Z","timestamp":1756289414163,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,4,26]]},"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:p>A girl in the early adolescent age group presented with multisystem manifestations in the form of periodic fever, recurrent abdominal pain, hypertension, seizure, skin lesions over the chest and gangrene over the left ring and middle fingertips. Her condition had remained undiagnosed for 11 years. On evaluation, she had features of polyarteritis nodosa (PAN) (multiple aneurysms, symmetric sensorimotor peripheral neuropathy, superficial ulcers, digital necrosis, myalgia, hypertension and proteinuria). As childhood PAN is a phenocopy of adenosine deaminase 2 with a different management strategy, whole-exome sequencing was performed, which revealed a pathogenic variant in <jats:italic>ADA2<\/jats:italic> gene. The child was treated with TNF alpha inhibitors and showed improvement in the Paediatric Vasculitis Activity Score. The paper highlights the gratifying consequences of correct diagnosis with disease-specific therapy that ended the diagnostic odyssey, providing relief to the patient from debilitating symptoms and to the family from the financial burden of continued out-of-pocket health expenditure.<\/jats:p>","DOI":"10.1136\/bcr-2023-258410","type":"journal-article","created":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T13:15:40Z","timestamp":1715260540000},"page":"e258410","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Deficiency of adenosine deaminase 2: a genetic autoinflammatory disorder mimicking childhood polyarteritis nodosa"],"prefix":"10.1136","volume":"17","author":[{"given":"Shweta","family":"Mhatre","sequence":"first","affiliation":[{"name":"Pediatrics, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9420-827X","authenticated-orcid":false,"given":"Mamta","family":"Muranjan","sequence":"additional","affiliation":[{"name":"Pediatrics, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1170-325X","authenticated-orcid":false,"given":"Sunil","family":"Karande","sequence":"additional","affiliation":[{"name":"Pediatrics, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aparna","family":"Thirumalaiswamy","sequence":"additional","affiliation":[{"name":"Dermatology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,5,9]]},"reference":[{"key":"2025082702511209000_17.5.e258410.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1307361"},{"key":"2025082702511209000_17.5.e258410.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1307362"},{"key":"2025082702511209000_17.5.e258410.3","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2022.885893","article-title":"The growing spectrum of DADA2 manifestations-diagnostic and therapeutic challenges revisited","volume":"10","author":"Escherich","year":"2022","journal-title":"Front Pediatr"},{"key":"2025082702511209000_17.5.e258410.4","first-page":"1","article-title":"Pediatric tuberculosis in young children in India: a prospective study","volume":"2013","author":"Jain","year":"2013","journal-title":"BioMed Research International"},{"key":"2025082702511209000_17.5.e258410.5","doi-asserted-by":"publisher","DOI":"10.1136\/ard.2009.116657"},{"key":"2025082702511209000_17.5.e258410.6","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1002\/acr.24633","article-title":"American college of rheumatology\/vasculitis foundation guideline for the management of polyarteritis nodosa","volume":"73","author":"Chung","year":"2021","journal-title":"Arthritis Care & Research"},{"key":"2025082702511209000_17.5.e258410.7","doi-asserted-by":"crossref","first-page":"108411","DOI":"10.1016\/j.clim.2020.108411","article-title":"Polyarteritis nodosa and deficiency of adenosine deaminase 2 - shared genealogy, generations apart","volume":"215","author":"Huang","year":"2020","journal-title":"Clin Immunol"},{"key":"2025082702511209000_17.5.e258410.8","first-page":"876","article-title":"Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: a structural biological approach","volume":"21","author":"Zervou","year":"2020","journal-title":"Mol Med Rep"},{"key":"2025082702511209000_17.5.e258410.9","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-018-0525-8"},{"key":"2025082702511209000_17.5.e258410.10","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.jaci.2023.04.014","article-title":"Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2","volume":"152","author":"Chen","year":"2023","journal-title":"J Allergy Clin Immunol"},{"key":"2025082702511209000_17.5.e258410.11","unstructured":"Aksentijevich I , Sampaio Moura N , Barron K . Adenosine Deaminase 2 deficiency. In: Adam MP , Feldman J , Mirzaa GM , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle;1993-2003, 2019."},{"key":"2025082702511209000_17.5.e258410.12","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1159\/000517141","article-title":"A case of deficiency of adenosine deaminase 2: 28 years of diagnostic challenges","volume":"11","author":"Pardinhas","year":"2021","journal-title":"Case Rep Nephrol Dial"},{"key":"2025082702511209000_17.5.e258410.13","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/j.semarthrit.2021.04.009","article-title":"Systematic review of childhood-onset polyarteritis nodosa and DADA2","volume":"51","author":"Kasap Cuceoglu","year":"2021","journal-title":"Semin Arthritis Rheum"},{"key":"2025082702511209000_17.5.e258410.14","doi-asserted-by":"crossref","DOI":"10.1007\/s11926-017-0699-8","article-title":"Deficiency of adenosine deaminase 2 (DADA2), an inherited cause of polyarteritis nodosa and a mimic of other systemic rheumatological disorders","volume":"19","author":"Hashem","year":"2017","journal-title":"Curr Rheumatol Rep"},{"key":"2025082702511209000_17.5.e258410.15","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/s12969-023-00838-3","article-title":"A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran","volume":"21","author":"Asna Ashari","year":"2023","journal-title":"Pediatr Rheumatol Online J"},{"key":"2025082702511209000_17.5.e258410.16","doi-asserted-by":"publisher","DOI":"10.3899\/jrheum.181384"},{"key":"2025082702511209000_17.5.e258410.17","doi-asserted-by":"crossref","first-page":"3883","DOI":"10.1007\/s10067-021-05711-w","article-title":"Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment","volume":"40","author":"Pinto","year":"2021","journal-title":"Clin Rheumatol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-258410","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:51:21Z","timestamp":1756288281000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-258410"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":17,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,5,9]]},"published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1136\/bcr-2023-258410"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-258410","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,5]]}}}