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 …

Genetics of hereditary angioedema revisited

AE Germenis, M Speletas - Clinical reviews in allergy & immunology, 2016 - Springer
Contemporary genetic research has provided evidences that angioedema represents a
diverse family of disorders related to kinin metabolism, with a much greater genetic …

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 …

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 …

[HTML][HTML] Hereditary angioedema: the plasma contact system out of control

S De Maat, ZLM Hofman, C Maas - Journal of Thrombosis and Haemostasis, 2018 - Elsevier
The plasma contact system contributes to thrombosis in experimental models. Even though
our standard blood coagulation tests are prolonged when plasma lacks contact factors, this …

Angioedema phenotypes: disease expression and classification

MA Wu, F Perego, A Zanichelli, M Cicardi - Clinical reviews in allergy & …, 2016 - Springer
Due to marked heterogeneity of clinical presentations, comprehensive knowledge of
angioedema phenotypes is crucial for correct diagnosis and choosing the appropriate …

Disease severity, activity, impact, and control and how to assess them in patients with hereditary angioedema

A Bygum, P Busse, T Caballero, M Maurer - Frontiers in medicine, 2017 - frontiersin.org
Hereditary angioedema (HAE) is a group of rare, potentially life-threatening, and frequently
debilitating diseases characterized by recurrent, and often with an unpredictable onset, 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 …

Personalized medicine in allergy

M Ferrando, D Bagnasco, G Varricchi… - Allergy, asthma & …, 2017 - synapse.koreamed.org
Allergic disease is among the most common pathologies worldwide and its prevalence has
constantly increased up to the present days, even if according to the most recent data it …

Role of endothelial G protein-coupled receptor kinase 2 in angioedema

J Gambardella, D Sorriento, M Bova, M Rusciano… - …, 2020 - Am Heart Assoc
Excessive BK (bradykinin) stimulation is responsible for the exaggerated permeabilization of
the endothelium in angioedema. However, the molecular mechanisms underlying these …