The genetics of hereditary angioedema: a review

R Santacroce, G D'Andrea, AB Maffione… - Journal of clinical …, 2021 - mdpi.com
Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of
the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in …

[HTML][HTML] The international WAO/EAACI guideline for the management of hereditary angioedema–the 2021 revision and update

M Maurer, M Magerl, S Betschel, W Aberer… - World Allergy …, 2022 - Elsevier
Hereditary Angioedema (HAE) is a rare and disabling disease for which early diagnosis and
effective therapy are critical. This revision and update of the global WAO/EAACI guideline on …

SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE

C Drouet, A López-Lera, A Ghannam… - Frontiers in …, 2022 - frontiersin.org
Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a
constellation of variants of the SERPING1 gene (n= 809; 1,494 pedigrees), accounting for …

European society for immunodeficiencies (ESID) and European reference network on rare primary immunodeficiency, autoinflammatory and autoimmune diseases …

N Brodszki, A Frazer-Abel, AS Grumach… - Journal of clinical …, 2020 - Springer
This guideline aims to describe the complement system and the functions of the constituent
pathways, with particular focus on primary immunodeficiencies (PIDs) and their diagnosis …

The expanding spectrum of mutations in hereditary angioedema

CL Veronez, D Csuka, FR Sheikh, BL Zuraw… - The Journal of Allergy …, 2021 - Elsevier
The evolution in the knowledge of rare genetic diseases such as hereditary angioedema
(HAE) has increased at a parallel pace with the development of new molecular tools. The …

Biomarkers in hereditary angioedema

G Porebski, M Kwitniewski, A Reshef - Clinical Reviews in Allergy & …, 2021 - Springer
A biomarker is a defined characteristic measured as an indicator of normal, biologic,
pathogenic processes, or biological responses to an exposure or intervention. Diagnostic …

Definition, aims, and implementation of GA2LEN/HAEi Angioedema Centers of Reference and Excellence

M Maurer, W Aberer, R Agondi, M Al‐Ahmad… - allergy, 2020 - Wiley Online Library
To the Editor, GA2LEN, the Global Allergy and Asthma European Network, and HAE
international (HAEi), the global umbrella organization for the world's hereditary angioedema …

[HTML][HTML] Current medical management of hereditary angioedema: follow-up survey of US physicians

MA Riedl, A Banerji, R Gower - Annals of Allergy, Asthma & Immunology, 2021 - Elsevier
Background Physician surveys on hereditary angioedema (HAE) management in 2010 and
2013 revealed important trends in HAE care. Objective To evaluate current HAE …

A review of berotralstat for the treatment of hereditary angioedema

H Farkas, Z Balla - Expert Review of Clinical Immunology, 2023 - Taylor & Francis
Introduction Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) imposes a
significant disease burden on patients and their families. Unpredictable episodes of …

Leveraging genetics for hereditary angioedema: a road map to precision medicine

AE Germenis, M Rijavec, CL Veronez - Clinical Reviews in Allergy & …, 2021 - Springer
Biochemical studies performed during the last decades resulted in the development of
various innovative medicinal products for hereditary angioedema (HAE). These therapeutic …