{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T07:55:00Z","timestamp":1773820500825,"version":"3.50.1"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T00:00:00Z","timestamp":1773792000000},"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>\n                    A20 haploinsufficiency (HA20) is an early-onset monogenic autoinflammatory disease caused by loss-of-function variants in the\n                    <jats:italic>TNFAIP3<\/jats:italic>\n                    gene, which encodes the A20 protein. Clinically, HA20 typically manifests with Beh\u00e7et's disease-like features and often occurs in patients with a family history. Herein, we report a 1-month-old Chinese male infant who developed oral ulcers during the neonatal period, followed by recurrent fever, rash, elevated inflammatory markers, elevated liver enzymes, and positive lupus-related antibodies, with no relevant family history. Subsequent whole-exome sequencing identified a heterozygous variant in\n                    <jats:italic>TNFAIP3<\/jats:italic>\n                    :\n                    <jats:italic>c.1876_1877del (p. Leu626ValfsTer45)<\/jats:italic>\n                    , leading to the diagnosis of HA20. The patient's symptoms resolved completely with glucocorticoid monotherapy. We recommend that HA20 should be considered in the differential diagnosis of autoinflammatory disorders in infants and young children presenting with recurrent fever and rash, even in the absence of a family history of HA20.\n                  <\/jats:p>","DOI":"10.3389\/fped.2026.1697285","type":"journal-article","created":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T06:56:02Z","timestamp":1773816962000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A case of haploinsufficiency of A20 in a newborn with abnormal liver enzymes at disease onset"],"prefix":"10.3389","volume":"14","author":[{"given":"Yuanying","family":"Yu","sequence":"first","affiliation":[{"name":"Hunan Provincial People's Hospital and The First Affiliated Hospital of Hunan Normal University","place":["Changsha, Hunan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saizhen","family":"Zeng","sequence":"additional","affiliation":[{"name":"Hunan Provincial People's Hospital and The First Affiliated Hospital of Hunan Normal University","place":["Changsha, Hunan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/ng.3459","article-title":"Loss-of-function mutations 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":"1282","DOI":"10.1016\/j.jid.2023.12.007","article-title":"A20 haploinsufficiency: a systematic review of 177 cases","volume":"144","author":"Elhani","year":"2024","journal-title":"J Invest Dermatol"},{"key":"B3","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":"B4","doi-asserted-by":"publisher","first-page":"780689","DOI":"10.3389\/fimmu.2021.780689","article-title":"A20 haploinsufficiency in east Asia","volume":"12","author":"Kadowaki","year":"","journal-title":"Front Immunol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"8275","DOI":"10.3390\/ijms25158275","article-title":"Genetic mutations associated with TNFAIP3 (A20) haploinsufficiency and their impact on inflammatory diseases","volume":"25","author":"Bagyinszky","year":"2024","journal-title":"Int J Mol Sci"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41439-020-00128-4","article-title":"Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion","volume":"8","author":"Taniguchi","year":"2021","journal-title":"Hum Genome Var"},{"key":"B7","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/s12969-023-00947-z","article-title":"A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q","volume":"22","author":"Zhang","year":"2024","journal-title":"Pediatr Rheumatol Online J"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1548042","DOI":"10.3389\/fimmu.2025.1548042","article-title":"Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological survey","volume":"16","author":"Shiraki","year":"2025","journal-title":"Front Immunol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1007\/s11882-025-01203-y","article-title":"Pediatric systemic autoinflammatory disorders: an overview","volume":"25","author":"Patel","year":"2025","journal-title":"Curr Allergy Asthma Rep"},{"key":"B10","first-page":"1993","article-title":"Haploinsufficiency of A20","volume-title":"GeneReviews\u00ae [Internet]","author":"Deuitch","year":"2024"},{"key":"B11","doi-asserted-by":"publisher","first-page":"574992","DOI":"10.3389\/fimmu.2020.574992","article-title":"Association of clinical phenotypes in haploinsufficiency A20 (HA20) with disrupted domains of A20","volume":"11","author":"Chen","year":"2020","journal-title":"Front Immunol"},{"key":"B12","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1111\/hepr.14003","article-title":"A case of A20 haploinsufficiency complicated by autoimmune hepatitis","volume":"54","author":"Iwasa","year":"2024","journal-title":"Hepatol Res"},{"key":"B13","doi-asserted-by":"publisher","first-page":"e2250","DOI":"10.1038\/cddis.2016.154","article-title":"A20 prevents chronic liver inflammation and cancer by protecting hepatocytes from death","volume":"7","author":"Catrysse","year":"2016","journal-title":"Cell Death Dis"},{"key":"B14","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1186\/s12969-021-00558-6","article-title":"Clinical characteristics and genetic analysis of A20 haploinsufficiency","volume":"19","author":"Zhang","year":"2021","journal-title":"Pediatr Rheumatol Online J"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1697285\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T06:56:07Z","timestamp":1773816967000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1697285\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,18]]},"references-count":14,"alternative-id":["10.3389\/fped.2026.1697285"],"URL":"https:\/\/doi.org\/10.3389\/fped.2026.1697285","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,18]]},"article-number":"1697285"}}