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 …
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 …
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 …
[HTML][HTML] An update on the genetics and pathogenesis of hereditary angioedema
AZ Banday, A Kaur, AK Jindal, A Rawat, S Singh - Genes & Diseases, 2020 - Elsevier
Hereditary angioedema (HAE) is an uncommon genetic disorder characterized by recurrent
episodes of edema involving subcutaneous tissue and submucosa. The pathogenesis of …
episodes of edema involving subcutaneous tissue and submucosa. The pathogenesis of …
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
H Grombirikova, V Bily, P Soucek, M Kramarek… - Journal of Clinical …, 2023 - Springer
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare and life-
threatening condition characterized by recurrent localized edema. We conducted a …
threatening condition characterized by recurrent localized edema. We conducted a …
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 …
Kallikrein inhibitors for angioedema: the progress of preclinical and early phase studies
H Farkas, Z Balla - Expert opinion on investigational drugs, 2024 - Taylor & Francis
Introduction Hereditary angioedema (HAE) is a rare genetic disorder characterized by
recurrent edema and predominantly caused by the dysregulation of the kinin-kallikrein …
recurrent edema and predominantly caused by the dysregulation of the kinin-kallikrein …
The panorama of primary angioedema in the Brazilian population
CL Veronez, AR Mendes, CS Leite, CP Gomes… - The Journal of Allergy …, 2021 - Elsevier
Background Primary angioedema (PA) is a complex disorder, presenting multiple hereditary
(hereditary angioedema) and acquired subtypes (acquired angioedema). Despite a very …
(hereditary angioedema) and acquired subtypes (acquired angioedema). Despite a very …
Angioedema without urticaria: novel findings which must be measured in clinical setting
CL Veronez, AS Grumach - Current Opinion in Allergy and Clinical …, 2020 - journals.lww.com
The validation of biomarkers for the contact system activation could be beneficial in
differentiating bradykinin–from histaminergic-mediated angioedema. Currently, the available …
differentiating bradykinin–from histaminergic-mediated angioedema. Currently, the available …
Is Icatibant Safe for the Treatment of Hereditary Angioedema During Pregnancy?
DV Šimac, T Štimac, S Novak - Current Allergy and Asthma Reports, 2022 - Springer
Abstract Purpose of Review Hereditary angioedema (HAE) is a disorder affecting bradykinin
regulation presenting as recurrent cutaneous or mucosal swelling. Treatment options …
regulation presenting as recurrent cutaneous or mucosal swelling. Treatment options …