遗传性血管性水肿与一种新型激肽原1基因突变共分离，该突变改变了缓激肽的N端切割位点。 - Suppr

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超能文献

Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin.

作者信息

Bork Konrad, Wulff Karin, Rossmann Heidi, Steinmüller-Magin Lars, Braenne Ingrid, Witzke Günther, Hardt Jochen

机构信息

Department of Dermatology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.

University Medicine, Ernst Moritz Arndt University, Greifswald, Germany.

出版信息

Allergy. 2019 Dec;74(12):2479-2481. doi: 10.1111/all.13869. Epub 2019 Jun 7.

DOI:10.1111/all.13869

PMID:31087670

Abstract

摘要

相似文献

Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin.

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Deficiency of plasminogen activator inhibitor 2 in plasma of patients with hereditary angioedema with normal C1 inhibitor levels.

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Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin.

作者信息

Bork Konrad, Wulff Karin, Rossmann Heidi, Steinmüller-Magin Lars, Braenne Ingrid, Witzke Günther, Hardt Jochen

机构信息

Department of Dermatology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.

University Medicine, Ernst Moritz Arndt University, Greifswald, Germany.

出版信息

Allergy. 2019 Dec;74(12):2479-2481. doi: 10.1111/all.13869. Epub 2019 Jun 7.

DOI:10.1111/all.13869

PMID:31087670

Abstract

摘要

相似文献

Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin.

Allergy. 2019 Dec;74(12):2479-2481. doi: 10.1111/all.13869. Epub 2019 Jun 7.

Complement, Kinins, and Hereditary Angioedema: Mechanisms of Plasma Instability when C1 Inhibitor is Absent.

Clin Rev Allergy Immunol. 2016 Oct;51(2):207-15. doi: 10.1007/s12016-016-8555-6.

Contact System Activation and Bradykinin Generation in Angioedema: Laboratory Assessment and Biomarker Utilization.

Immunol Allergy Clin North Am. 2024 Aug;44(3):543-560. doi: 10.1016/j.iac.2024.03.011. Epub 2024 May 18.

Pathogenesis of Hereditary Angioedema: The Role of the Bradykinin-Forming Cascade.

Immunol Allergy Clin North Am. 2017 Aug;37(3):513-525. doi: 10.1016/j.iac.2017.04.001.

HAE Pathophysiology and Underlying Mechanisms.

Clin Rev Allergy Immunol. 2016 Oct;51(2):216-29. doi: 10.1007/s12016-016-8561-8.

Cleaved kininogen as a biomarker for bradykinin release in hereditary angioedema.

J Allergy Clin Immunol. 2017 Dec;140(6):1700-1703.e8. doi: 10.1016/j.jaci.2017.07.012. Epub 2017 Aug 4.

Hereditary and acquired C1-inhibitor-dependent angioedema: from pathophysiology to treatment.

Ann Med. 2016;48(4):256-67. doi: 10.3109/07853890.2016.1162909. Epub 2016 Mar 26.

Deficiency of plasminogen activator inhibitor 2 in plasma of patients with hereditary angioedema with normal C1 inhibitor levels.

J Allergy Clin Immunol. 2016 Jun;137(6):1822-1829.e1. doi: 10.1016/j.jaci.2015.07.041. Epub 2015 Sep 26.

Bradykinin and oxidative stress in patients with hereditary angioedema due to C1 inhibitor deficiency.

Pol Arch Intern Med. 2020 Feb 27;130(2):79-88. doi: 10.20452/pamw.15138. Epub 2020 Jan 14.

Plasmin is a natural trigger for bradykinin production in patients with hereditary angioedema with factor XII mutations.

J Allergy Clin Immunol. 2016 Nov;138(5):1414-1423.e9. doi: 10.1016/j.jaci.2016.02.021. Epub 2016 Apr 6.

引用本文的文献

Evaluating functional C1INH with multiple laboratory methods across Hereditary Angioedema types.

Front Immunol. 2025 Aug 26;16:1654078. doi: 10.3389/fimmu.2025.1654078. eCollection 2025.

One-year real-life outcomes of lanadelumab therapy in Romanian patients with hereditary angioedema due to C1-inhibitor deficiency.

Front Allergy. 2025 Aug 21;6:1636425. doi: 10.3389/falgy.2025.1636425. eCollection 2025.

Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights.

J Clin Immunol. 2025 Aug 23;45(1):124. doi: 10.1007/s10875-025-01912-z.

Four patients with hereditary angioedema with different initial symptoms and clinical features.

World J Emerg Med. 2025 May 1;16(3):283-285. doi: 10.5847/wjem.j.1920-8642.2025.060.

Hereditary Angioedema with Normal C1 Inhibitor: an Updated International Consensus Paper on Diagnosis, Pathophysiology, and Treatment.

Clin Rev Allergy Immunol. 2025 Mar 7;68(1):24. doi: 10.1007/s12016-025-09027-4.

or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency.

Front Immunol. 2025 Feb 6;16:1550380. doi: 10.3389/fimmu.2025.1550380. eCollection 2025.

Lethal COVID-19 associates with RAAS-induced inflammation for multiple organ damage including mediastinal lymph nodes.

Proc Natl Acad Sci U S A. 2024 Dec 3;121(49):e2401968121. doi: 10.1073/pnas.2401968121. Epub 2024 Nov 27.

Systemic inflammation biomarkers during angioedema attacks in hereditary angioedema.

Front Immunol. 2024 Jun 17;15:1400526. doi: 10.3389/fimmu.2024.1400526. eCollection 2024.

Hereditary angioedema classification: Expanding knowledge by genotyping and endotyping.

World Allergy Organ J. 2024 May 23;17(5):100906. doi: 10.1016/j.waojou.2024.100906. eCollection 2024 May.

Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in gene.

World Allergy Organ J. 2024 Mar 7;17(3):100885. doi: 10.1016/j.waojou.2024.100885. eCollection 2024 Mar.