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 …

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes

D Ponard, C Gaboriaud, D Charignon… - Human …, 2020 - Wiley Online Library
Abstract C1 inhibitor (C1Inh) deficiency is responsible for hereditary angioedema (C1‐INH‐
HAE) and caused by variants of the SERPING1/C1INH/C1NH gene. C1Inh is the major …

International consensus on the use of genetics in the management of hereditary angioedema

AE Germenis, M Margaglione, JB Pesquero… - The Journal of Allergy …, 2020 - Elsevier
Hereditary angioedema (HAE) is becoming much more genetically complex than was
initially considered. Thus, the role of HAE genetics is expanding beyond research …

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 …

Hereditary angioedema

RG Wilkerson, JJ Moellman - … and Allergy Clinics, 2023 - immunology.theclinics.com
Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder that
presents with episodic swelling of the skin or mucosal tissue of the upper respiratory and …

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 …

[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 …

[HTML][HTML] Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses

Z Ren, S Zhao, T Li, HJ Wedner, JP Atkinson - Journal of Allergy and …, 2023 - Elsevier
Background The pathogenesis of hereditary angioedema (HAE) type I and type II is linked to
defective C1 esterase inhibitor (C1-INH) encoded by the SERPING1 gene. There are …

Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation

P Hujová, P Souček, L Grodecká… - Journal of clinical …, 2020 - Springer
Purpose Hereditary angioedema (HAE) is a rare autosomal dominant life-threatening
disease characterized by low levels of C1 inhibitor (type I HAE) or normal levels 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 …