Hereditary angioedema

PJ Busse, SC Christiansen - New England Journal of Medicine, 2020 - Mass Medical Soc
Hereditary Angioedema Hereditary angioedema is a rare genetic disease that may include
recurrent attacks of cutaneous angioedema, severe abdominal pain, and airway …

SERPINs—from trap to treatment

W Sanrattana, C Maas, S De Maat - Frontiers in medicine, 2019 - frontiersin.org
Excessive enzyme activity often has pathological consequences. This for example is the
case in thrombosis and hereditary angioedema, where serine proteases of the coagulation …

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 …

Anticoagulant SERPINs: endogenous regulators of hemostasis and thrombosis

SP Grover, N Mackman - Frontiers in Cardiovascular Medicine, 2022 - frontiersin.org
Appropriate activation of coagulation requires a balance between procoagulant and
anticoagulant proteins in blood. Loss in this balance leads to hemorrhage and thrombosis. A …

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: diagnosis, clinical implications, and pathophysiology

ES Sinnathamby, PP Issa, L Roberts, H Norwood… - Advances in …, 2023 - Springer
Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a mutation in
the C1 esterase inhibitor gene. HAE affects 1/50,000 people worldwide. Three main types of …

[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 …

Plasminflammation—an emerging pathway to bradykinin production

C Maas - Frontiers in Immunology, 2019 - frontiersin.org
Plasminogen activation is essential for fibrinolysis—the breakdown of fibrin polymers in
blood clots. Besides this important function, plasminogen activation participates in a wide …

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 …