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 …
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
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 …
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
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 …
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 …
pathways, with particular focus on primary immunodeficiencies (PIDs) and their diagnosis …
The expanding spectrum of mutations in hereditary angioedema
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 …
(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 …
pathogenic processes, or biological responses to an exposure or intervention. Diagnostic …
Definition, aims, and implementation of GA2LEN/HAEi Angioedema Centers of Reference and Excellence
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 …
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 …
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 …
significant disease burden on patients and their families. Unpredictable episodes of …
Leveraging genetics for hereditary angioedema: a road map to precision medicine
Biochemical studies performed during the last decades resulted in the development of
various innovative medicinal products for hereditary angioedema (HAE). These therapeutic …
various innovative medicinal products for hereditary angioedema (HAE). These therapeutic …