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Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.日本伴有和不伴有C1抑制剂（C1-INH）缺乏的遗传性血管性水肿的临床和遗传特征。
Allergy. 2021 Nov;76(11):3529-3534. doi: 10.1111/all.15034. Epub 2021 Aug 12.
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Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations.遗传性血管性水肿伴正常 C1-INH 与有无特定 F12 基因突变。
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Hereditary angioedema with normal c1 inhibition.C1抑制正常的遗传性血管性水肿
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Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor.基因突变为常染色体显性遗传性血管性水肿伴正常 C1 抑制剂患者的孤立性血管性水肿的致病因素。
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Definition and classification of hereditary angioedema.遗传性血管性水肿的定义和分类。
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Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.遗传性血管性水肿（HAE）除 SERPING1 基因以外的病理生理学
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Hereditary angioedema with normal C1 inhibitor.遗传性血管性水肿伴正常 C1 抑制剂。
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A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia.一个日本遗传性血管性水肿家系纤溶酶原基因突变研究：亚洲第三家系调查
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Hereditary Angioedema with Normal C1 Inhibitor: an Updated International Consensus Paper on Diagnosis, Pathophysiology, and Treatment.C1 抑制剂正常的遗传性血管性水肿：关于诊断、病理生理学及治疗的国际最新共识文件
Clin Rev Allergy Immunol. 2025 Mar 7;68(1):24. doi: 10.1007/s12016-025-09027-4.
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Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.全球最大的1型遗传性血管性水肿家系的表型和分子特征分析
PLoS One. 2024 Dec 26;19(12):e0311316. doi: 10.1371/journal.pone.0311316. eCollection 2024.
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Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in gene.斯洛伐克全国遗传性血管性水肿队列的综合分析——在该基因中鉴定出12种新变体。
World Allergy Organ J. 2024 Mar 7;17(3):100885. doi: 10.1016/j.waojou.2024.100885. eCollection 2024 Mar.
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Recessive Variant Leads to Kinin-Kallikrein System Control Failure in a Consanguineous Brazilian Family with Hereditary Angioedema.隐性变异导致一个患有遗传性血管性水肿的巴西近亲家庭激肽-激肽释放酶系统控制失效。
J Clin Med. 2023 Nov 24;12(23):7299. doi: 10.3390/jcm12237299.
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Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.系统方法揭示 SERPING1 剪接变异在捷克国家 HAE 队列中高度代表性。
J Clin Immunol. 2023 Nov;43(8):1974-1991. doi: 10.1007/s10875-023-01565-w. Epub 2023 Aug 25.
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World Allergy Organ J. 2023 Jun 27;16(6):100784. doi: 10.1016/j.waojou.2023.100784. eCollection 2023 Jun.
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National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia.拉脱维亚遗传性血管性水肿患者临床及遗传特征的全国性调查。
Allergy Asthma Clin Immunol. 2023 Apr 8;19(1):28. doi: 10.1186/s13223-023-00783-6.
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Altered Urinary Metabolomics in Hereditary Angioedema.遗传性血管性水肿患者尿液代谢组学的改变
Metabolites. 2022 Nov 19;12(11):1140. doi: 10.3390/metabo12111140.
10
A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia.一个日本遗传性血管性水肿家系纤溶酶原基因突变研究：亚洲第三家系调查
Intern Med. 2023 Jul 1;62(13):2005-2008. doi: 10.2169/internalmedicine.0645-22. Epub 2022 Nov 23.

本文引用的文献

1
Hereditary Angioedema.遗传性血管性水肿
N Engl J Med. 2020 Mar 19;382(12):1136-1148. doi: 10.1056/NEJMra1808012.
2
A missense mutation of the plasminogen gene in hereditary angioedema with normal C1 inhibitor in Japan.日本遗传性血管性水肿伴正常C1抑制剂的纤溶酶原基因错义突变。
Allergy. 2018 Nov;73(11):2244-2247. doi: 10.1111/all.13550. Epub 2018 Aug 13.
3
Hereditary angioedema with a mutation in the plasminogen gene.遗传性血管性水肿伴纤溶酶原基因突变。
Allergy. 2018 Feb;73(2):442-450. doi: 10.1111/all.13270. Epub 2017 Sep 7.
4
Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations.遗传性血管性水肿伴正常 C1-INH 与有无特定 F12 基因突变。
Allergy. 2015 Aug;70(8):1004-12. doi: 10.1111/all.12648. Epub 2015 May 22.
5
Hereditary angioedema with normal C1-INH (HAE type III).遗传性血管性水肿伴正常 C1-INH（HAE 型 III）。
J Allergy Clin Immunol Pract. 2013 Sep-Oct;1(5):427-32. doi: 10.1016/j.jaip.2013.06.004. Epub 2013 Aug 2.
6
Clinical features of hereditary angioedema in Chinese patients: new findings and differences from other populations.中国遗传性血管性水肿患者的临床特征：新发现及与其他人群的差异。
Eur J Dermatol. 2013 Jul-Aug;23(4):500-4. doi: 10.1684/ejd.2013.2105.
7
LOVD v.2.0: the next generation in gene variant databases.LOVD v.2.0：基因变异数据库的新一代产品。
Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22.
8
A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations.一例因因子 XII 缺乏症而出现抗因子 H 抗体导致的非典型溶血尿毒综合征患者，发现了两种新的突变。
Clin Exp Nephrol. 2011 Apr;15(2):269-74. doi: 10.1007/s10157-010-0375-z. Epub 2011 Jan 27.
9
Hereditary angioedema: new findings concerning symptoms, affected organs, and course.遗传性血管性水肿：关于症状、受累器官及病程的新发现
Am J Med. 2006 Mar;119(3):267-74. doi: 10.1016/j.amjmed.2005.09.064.

Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.

作者信息

Hashimura Chinami, Kiyohara Chikako, Fukushi Jun-Ichi, Hirose Tomoya, Ohsawa Isao, Tahira Tomoko, Horiuchi Takahiko

机构信息

Clinical Research Center, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan.

Center for Research, Education, and Treatment of angioEdema, a specified Non-profit Corporation, Fukuoka, Japan.

出版信息

Allergy. 2021 Nov;76(11):3529-3534. doi: 10.1111/all.15034. Epub 2021 Aug 12.

DOI:10.1111/all.15034
PMID:34343365
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9291306/
Abstract
摘要