{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T11:15:14Z","timestamp":1787829314820,"version":"build-2784847793"},"reference-count":9,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T00:00:00Z","timestamp":1686700800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Haploinsufficiency of A20 was first described in 2016 as a new autoinflammatory disease that clinically presents as early-onset Behcet's disease. After the publication of the first 16 cases, more patients were diagnosed and described in the literature. The spectrum of clinical presentation has expanded. In this short report, we present a patient with a novel mutation in the <jats:italic>TNFAIP3<\/jats:italic> gene. The clinical presentation included signs of an autoinflammatory disease with recurrent fever, abdominal pain, diarrhea, respiratory tract infections, and elevated inflammatory parameters. We will emphasize the importance of genetic testing, especially in patients with various clinical signs that do not fit a single autoinflammatory disease.<\/jats:p>","DOI":"10.3389\/fped.2023.1132596","type":"journal-article","created":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T05:41:55Z","timestamp":1686721315000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene"],"prefix":"10.3389","volume":"11","author":[{"given":"M.","family":"Debeljak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Blazina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Brecelj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Av\u010din","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Toplak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,6,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/ng.3459","article-title":"Loss-of-function mutation in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease","volume":"48","author":"Zhou","year":"2016","journal-title":"Nat Genet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"399","DOI":"10.3389\/fimmu.2017.00399","article-title":"NF-\u03baB Pathway in autoinflammatory diseases: dysregulation of protein modifications by ubiquitin defines a new category of autoinflammatory diseases","volume":"8","author":"Aksentijevich","year":"2017","journal-title":"Front Immunol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1136\/annrheumdis-2017-212403","article-title":"A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease","volume":"77","author":"Aeshlimann","year":"2018","journal-title":"Ann Rheum Dis"},{"key":"B4","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1097\/BOR.0000000000000532","article-title":"Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement","volume":"30","author":"Aeschlimann","year":"2018","journal-title":"CurrOpin Rheumatol"},{"key":"B5","year":""},{"key":"B6","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1007\/s12519-019-00288-6","article-title":"Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment","volume":"16","author":"Yu","year":"2020","journal-title":"World J Pediatr"},{"key":"B7","doi-asserted-by":"publisher","first-page":"816005","DOI":"10.3389\/fimmu.2022.816005","article-title":"CD3+ CD4\u2212CD8\u2212 (double-negative) T cells in inflammation, immune disorders and cancer","volume":"13","author":"Wu","year":"2022","journal-title":"Front Immunol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"990008","DOI":"10.3389\/fped.2022.990008","article-title":"Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: a case report and review of the literature","volume":"10","author":"Liu","year":"2023","journal-title":"Front Pediatr"},{"key":"B9","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1136\/annrheumdis-2019-215918","article-title":"Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20","volume":"79","author":"Schwartz","year":"2020","journal-title":"Ann Rheum Dis"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1132596\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T05:41:57Z","timestamp":1686721317000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1132596\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,14]]},"references-count":9,"alternative-id":["10.3389\/fped.2023.1132596"],"URL":"https:\/\/doi.org\/10.3389\/fped.2023.1132596","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,14]]},"article-number":"1132596"}}