{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T03:51:20Z","timestamp":1772077880477,"version":"3.50.1"},"reference-count":6,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,1,15]],"date-time":"2023-01-15T00:00:00Z","timestamp":1673740800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A20 haploinsufficiency (HA20) is an early\u2010onset autoinflammatory disease caused by loss\u2010of\u2010function variants of the <jats:italic>TNFAIP3<\/jats:italic> gene, which encodes the protein A20. HA20 is typically characterized by Beh\u00e7et's disease\u2010like clinical symptoms, and patients usually present with a family history. Herein, we report a case of HA20 in a pediatric patient, presenting with periodic fever, abdominal pain, and vomiting, with no family history. This patient also harbored a novel heterozygous frameshift variant c.677del (p.Pro226LeufsTer2) of <jats:italic>TNFAIP3<\/jats:italic>. We initiated treatment with an anti\u2010tumor necrosis factor\u2010\u03b1 agent that did not induce symptom resolution; we thus administered combination therapy, including prednisolone. Remission was then successfully achieved. We suggest that HA20 should be considered when an autoinflammatory disease is suspected and periodic fever syndrome is present, even in the absence of a family history of HA20 or Beh\u00e7et's disease\u2010like symptoms.<\/jats:p>","DOI":"10.1111\/1756-185x.14564","type":"journal-article","created":{"date-parts":[[2023,1,15]],"date-time":"2023-01-15T19:15:35Z","timestamp":1673810135000},"page":"973-976","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["An infant with <scp>A20<\/scp> haploinsufficiency presenting with periodic fever syndrome: A case report"],"prefix":"10.1111","volume":"26","author":[{"given":"Ryosuke","family":"Wakatsuki","sequence":"first","affiliation":[{"name":"Department of Pediatrics Tokyo Bay Urayasu Ichikawa Medical Center  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiho","family":"Hatai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tokyo Bay Urayasu Ichikawa Medical Center  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kentaro","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Tokyo Medical and Dental University Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuya","family":"Kaneko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asami","family":"Shimbo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Irabu","sequence":"additional","affiliation":[{"name":"Department of Community Pediatrics, Perinatal, and Maternal Medicine Tokyo Medical and Dental University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1077-7772","authenticated-orcid":false,"given":"Masaki","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Department of Child Health and Development Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Kanegane","sequence":"additional","affiliation":[{"name":"Department of Child Health and Development Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0551-1665","authenticated-orcid":false,"given":"Makoto","family":"Ono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tokyo Bay Urayasu Ichikawa Medical Center  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3459"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.780689"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2017.10.039"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2020.574992"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-021-01124-1"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07969"}],"container-title":["International Journal of Rheumatic 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