{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T10:24:38Z","timestamp":1786357478981,"version":"build-2736575974"},"reference-count":11,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T00:00:00Z","timestamp":1745884800000},"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. Allergy"],"abstract":"<jats:p>Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by recurrent, unpredictable episodes of angioedema that commonly involve the face, limbs, respiratory tract, and gastrointestinal tract. Clinical presentations vary substantially among individuals, increasing the likelihood of misdiagnosis or missed diagnosis. In severe cases, if not properly managed, laryngeal edema can result in asphyxiation or even death. Here, we report a Chinese male patient who experienced recurrent limb swelling and abdominal pain. Laboratory tests revealed low levels of complement C4 and C1 inhibitors, along with impaired C1 inhibitor function. Genomic DNA extracted from peripheral blood samples underwent PCR amplification and Sanger sequencing, which identified a <jats:italic>de novo<\/jats:italic> heterozygous mutation in the <jats:italic>SERPING1<\/jats:italic> gene at chr11:57379227, confirming a novel missense mutation NM_000062.c.1067T\u2009&amp;gt;\u2009A (p.V356E). Ultimately, the patient was diagnosed with HAE-C1INH-Type1 and successfully protected from recurrent attacks through subcutaneous administration of lanadelumab.<\/jats:p>","DOI":"10.3389\/falgy.2025.1554940","type":"journal-article","created":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T05:25:24Z","timestamp":1745904324000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case Report: Identification of a novel mutation, c.1067T\u2009&gt;\u2009A, in the SERPING1 gene in a Chinese male with type 1 hereditary angioedema"],"prefix":"10.3389","volume":"6","author":[{"given":"Wenjin","family":"Du","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiuxing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianghua","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenchao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weili","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaoji","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siqin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,4,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1186\/s13023-018-0815-5","article-title":"Epidemiology of bradykinin-mediated angioedema: a systematic investigation of epidemiological studies","volume":"13","author":"Ayg\u00f6ren-P\u00fcrs\u00fcn","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"B2","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1007\/s12016-016-8575-2","article-title":"The humanistic, societal, and pharmaco-economic burden of angioedema","volume":"51","author":"Longhurst","year":"2016","journal-title":"Clin Rev Allergy Immunol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1961","DOI":"10.1111\/all.15214","article-title":"The international WAO\/EAACI guideline for the management of hereditary angioedema\u2014the 2021 revision and update","volume":"77","author":"Maurer","year":"2022","journal-title":"Allergy"},{"key":"B4","doi-asserted-by":"publisher","first-page":"2023","DOI":"10.3390\/jcm10092023","article-title":"The genetics of hereditary angioedema: a review","volume":"10","author":"Santacroce","year":"2021","journal-title":"J Clin Med"},{"key":"B5","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1016\/S0140-6736(11)60935-5","article-title":"Hereditary angio-oedema","volume":"379","author":"Longhurst","year":"2012","journal-title":"Lancet"},{"key":"B6","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1002\/humu.23917","article-title":"SERPING1 mutation update: mutation spectrum and C1 inhibitor phenotypes","volume":"41","author":"Ponard","year":"2020","journal-title":"Hum Mutat"},{"key":"B7","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1186\/s41065-022-00242-z","article-title":"Mutation update of SERPING1 related to hereditary angioedema in the Chinese population","volume":"159","author":"Wang","year":"2022","journal-title":"Hereditas"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1056\/NEJMcp0803977","article-title":"Clinical practice. Hereditary angioedema","volume":"359","author":"Zuraw","year":"2008","journal-title":"N Engl J Med"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1550380","DOI":"10.3389\/fimmu.2025.1550380","article-title":"de novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency","volume":"16","author":"Batlle-Mas\u00f3","year":"2025","journal-title":"Front Immunol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1684\/ejd.2013.2105","article-title":"Clinical features of hereditary angioedema in Chinese patients: new findings and differences from other populations","volume":"23","author":"Xu","year":"2013","journal-title":"Eur J Dermatol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1684\/ejd.2018.3487","article-title":"Hereditary angioedema: a Chinese perspective","volume":"29","author":"Liu","year":"2019","journal-title":"Eur J Dermatol"}],"container-title":["Frontiers in Allergy"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/falgy.2025.1554940\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T05:25:25Z","timestamp":1745904325000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/falgy.2025.1554940\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,29]]},"references-count":11,"alternative-id":["10.3389\/falgy.2025.1554940"],"URL":"https:\/\/doi.org\/10.3389\/falgy.2025.1554940","relation":{},"ISSN":["2673-6101"],"issn-type":[{"value":"2673-6101","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,29]]},"article-number":"1554940"}}