Literature DB >> 28687110

Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment.

Markus Magerl1, Anastasios E Germenis2, Coen Maas3, Marcus Maurer4.   

Abstract

A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients with the new form of HAE, C1-INH plasma levels and function values are normal, so it's termed HAE with normal C1-INH (HAE-nC1). HAE-nC1, in a subgroup of patients, is thought to be caused by mutations that affect the F12 gene. The diagnosis of HAE-nC1 is based on history and clinical criteria. There are no licensed drugs with proven treatment effects for HAE-nC1.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Bradykinin; C1-inhibitor; Factor XII; Hereditary angioedema; Mutation; Plasmin

Mesh：

Substances：

Year:  2017        PMID： 28687110     DOI： 10.1016/j.iac.2017.04.004

Source DB:  PubMed          Journal:  Immunol Allergy Clin North Am        ISSN： 0889-8561            Impact factor:   3.479


  10 in total

Review 1.  [Angioedema prophylaxis].

Authors:  V Zampeli; M Magerl
Journal:  Hautarzt       Date:  2019-02       Impact factor: 0.751

2.  Acute Presentation of Undiagnosed Hereditary Angioedema of the Larynx: Averting Death.

Authors:  Nikhil Rajan; Vidhu Sharma; Sourabha Kumar Patro; Amit Goyal
Journal:  Turk Arch Otorhinolaryngol       Date:  2020-12-01

3.  The international WAO/EAACI guideline for the management of hereditary angioedema - The 2021 revision and update.

Authors:  Marcus Maurer; Markus Magerl; Stephen Betschel; Werner Aberer; Ignacio J Ansotegui; Emel Aygören-Pürsün; Aleena Banerji; Noémi-Anna Bara; Isabelle Boccon-Gibod; Konrad Bork; Laurence Bouillet; Henrik Balle Boysen; Nicholas Brodszki; Paula J Busse; Anette Bygum; Teresa Caballero; Mauro Cancian; Anthony J Castaldo; Danny M Cohn; Dorottya Csuka; Henriette Farkas; Mark Gompels; Richard Gower; Anete S Grumach; Guillermo Guidos-Fogelbach; Michihiro Hide; Hye-Ryun Kang; Allen P Kaplan; Constance H Katelaris; Sorena Kiani-Alikhan; Wei-Te Lei; Richard F Lockey; Hilary Longhurst; William Lumry; Andrew MacGinnitie; Alejandro Malbran; Inmaculada Martinez Saguer; Juan José Matta Campos; Alexander Nast; Dinh Nguyen; Sandra A Nieto-Martinez; Ruby Pawankar; Jonathan Peter; Grzegorz Porebski; Nieves Prior; Avner Reshef; Marc Riedl; Bruce Ritchie; Farrukh Rafique Sheikh; William B Smith; Peter J Spaeth; Marcin Stobiecki; Elias Toubi; Lilian Agnes Varga; Karsten Weller; Andrea Zanichelli; Yuxiang Zhi; Bruce Zuraw; Timothy Craig
Journal:  World Allergy Organ J       Date:  2022-04-07       Impact factor: 5.516

4.  Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.

Authors:  Raquel López-Gálvez; María Eugenia de la Morena-Barrio; Alberto López-Lera; Monika Pathak; Antonia Miñano; Mercedes Serrano; Delphine Borgel; Vanessa Roldán; Vicente Vicente; Jonas Emsley; Javier Corral
Journal:  Orphanet J Rare Dis       Date:  2020-10-09       Impact factor: 4.123

5.  Clinical profile and treatment outcomes in patients with hereditary angioedema with normal C1 esterase inhibitor.

Authors:  Douglas H Jones; Priya Bansal; Jonathan A Bernstein; Shahnaz Fatteh; Joseph Harper; F Ida Hsu; Maeve O'Connor; Nami Park; Daniel Suez
Journal:  World Allergy Organ J       Date:  2022-01-27       Impact factor: 4.084

6.  Icatibant use in Brazilian patients with hereditary angioedema (HAE) type 1 or 2 and HAE with normal C1-INH levels: findings from the Icatibant Outcome Survey Registry Study.

Authors:  Anete S Grumach; Marina T Henriques; Maine L D Bardou; Daniele A Pontarolli; Jaco Botha; Mariangela Correa
Journal:  An Bras Dermatol       Date:  2022-05-30       Impact factor: 2.113

7.  A mechanism for hereditary angioedema with normal C1 inhibitor: an inhibitory regulatory role for the factor XII heavy chain.

Authors:  Ivan Ivanov; Anton Matafonov; Mao-Fu Sun; Bassem M Mohammed; Qiufang Cheng; S Kent Dickeson; Suman Kundu; Ingrid M Verhamme; Andras Gruber; Keith McCrae; David Gailani
Journal:  Blood       Date:  2018-12-27       Impact factor: 25.476

8.  Transition to lanadelumab-flyo from three medications for a hereditary angioedema patient with a variant in the SYTL2 gene: A case report.

Authors:  Stephanie Burns; Elena Lewis
Journal:  Clin Case Rep       Date:  2021-03-20

9.  A novel murine in vivo model for acute hereditary angioedema attacks.

Authors:  Sujata Bupp; Matthew Whittaker; Mari Lehtimaki; JuMe Park; Jessica Dement-Brown; Zhao-Hua Zhou; Steven Kozlowski
Journal:  Sci Rep       Date:  2021-08-05       Impact factor: 4.996

10.  Rediscovery of a forgotten disease: Hereditary Angioedema.

Authors:  Okan Gülbahar; Anastasios E Germenis
Journal:  Balkan Med J       Date:  2021-03       Impact factor: 2.021
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.