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 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 …
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
Hereditary angioedema (HAE) is becoming much more genetically complex than was
initially considered. Thus, the role of HAE genetics is expanding beyond research …
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
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …