An update on the genetics and pathogenesis of hereditary angioedema

Banday, Aaqib Zaffar; Kaur, Anit; Jindal, Ankur Kumar; Rawat, Amit; Singh, Surjit

doi:10.1016/j.gendis.2019.07.002

Cited by 47 publications

(70 citation statements)

References 54 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The classic forms HAE-1 and HAE-2 occur as a consequence of mutations in the C1-INH gene, SERPING1. HAE-1 is caused by mutations leading to a quantitative defect of C1-INH, whereas HAE-2 consists of qualitative defects of C1-INH function [ 72 ]. C1 inhibitor plays important roles in the regulation of vascular permeability through inhibition of FXIIa and kallikrein, involved in bradykinin production [ 73 ].…”

Section: The Pa System In Angioedema: a Key Interplay Between Vascmentioning

confidence: 99%

The Role of the Plasminogen Activation System in Angioedema: Novel Insights on the Pathogenesis

Napolitano

Montuori

2021

JCM

View full text Add to dashboard Cite

The main physiological functions of plasmin, the active form of its proenzyme plasminogen, are blood clot fibrinolysis and restoration of normal blood flow. The plasminogen activation (PA) system includes urokinase-type plasminogen activator (uPA), tissue-type PA (tPA), and two types of plasminogen activator inhibitors (PAI-1 and PAI-2). In addition to the regulation of fibrinolysis, the PA system plays an important role in other biological processes, which include degradation of extracellular matrix such as embryogenesis, cell migration, tissue remodeling, wound healing, angiogenesis, inflammation, and immune response. Recently, the link between PA system and angioedema has been a subject of scientific debate. Angioedema is defined as localized and self-limiting edema of subcutaneous and submucosal tissues, mediated by bradykinin and mast cell mediators. Different forms of angioedema are linked to uncontrolled activation of coagulation and fibrinolysis systems. Moreover, plasmin itself can induce a potentiation of bradykinin production with consequent swelling episodes. The number of studies investigating the PA system involvement in angioedema has grown in recent years, highlighting its relevance in etiopathogenesis. In this review, we present the components and diverse functions of the PA system in physiology and its importance in angioedema pathogenesis.

show abstract

Section: The Pa System In Angioedema: a Key Interplay Between Vascmentioning

confidence: 99%

The Role of the Plasminogen Activation System in Angioedema: Novel Insights on the Pathogenesis

Napolitano

Montuori

2021

JCM

View full text Add to dashboard Cite

show abstract

“…The C1 inhibitor (C1-INH) belongs to the serine protease inhibitor protein superfamily. The mutation in the SERPING1 gene leads to a decrease in serum levels or a decrease in inhibitor functionality, this results in the loss of regulation of factor XIIa and calicrein enzymes culminating in the overproduction of bradykinin [88]. This innate error corresponding to Hereditary Angioedema (HAE) and it is classified within group VIII of the IUIS that corresponds to complement deficiencies.…”

Section: Acquired Angioedemamentioning

confidence: 99%

Phenocopies: Mimics of Inborn Errors of Immunity

Alonso-Bello¹,

Espinosa‐Padilla²,

Temix-Delfin³

et al. 2020

OALib

View full text Add to dashboard Cite

A phenocopy is defined as a clinical non-inherited phenotype in an individual, with environmental induction, which is identical to the genetically determined phenotype of another. Until February 2017, the IUIS (International Union of Immunological Societies) reported in its classification 354 innate immunity errors and a final group (classification table IX) with conditions that are not part of the innate alterations and are called phenocopies. These are classified into two types, the associated with somatic mutations and those associated with auto-antibodies. The phenotypes that occur by any of the mechanisms mentioned are complex and varied. It is necessary to know the clinical manifestations of the pathologies classified in this group to enrich the possible differential diagnoses in individuals with suspected immunodeficiency.

show abstract

“…1,2 Hereditary angioedema (HAE) is a rare genetic life-long disabling disease that predisposes an individual to develop vasogenic edema. 3 HAE is an autosomal dominant disease, and most patients with HAE have a positive family history of angioedema. 3 The prevalence of HAE is estimated to be between 1:30,000 and 1:80,000 in the general population, and there is no evidence of sex, ethnic, or racial differences in the prevalence of HAE.…”

Section: Introductionmentioning

confidence: 99%

“…3 HAE is an autosomal dominant disease, and most patients with HAE have a positive family history of angioedema. 3 The prevalence of HAE is estimated to be between 1:30,000 and 1:80,000 in the general population, and there is no evidence of sex, ethnic, or racial differences in the prevalence of HAE. 1 Awareness and recognition of this disease is important as HAE is often misdiagnosed as allergic angioedema or acute abdomen (especially acute appendicitis).…”

Section: Introductionmentioning

confidence: 99%

Updates on hereditary angioedema in pediatrics

El‐Ghoneimy

2019

Egypt J Pediatr Allergy Immunol

View full text Add to dashboard Cite

An update on the genetics and pathogenesis of hereditary angioedema

Cited by 47 publications

References 54 publications

The Role of the Plasminogen Activation System in Angioedema: Novel Insights on the Pathogenesis

The Role of the Plasminogen Activation System in Angioedema: Novel Insights on the Pathogenesis

Phenocopies: Mimics of Inborn Errors of Immunity

Updates on hereditary angioedema in pediatrics

Contact Info

Product

Resources

About