The panorama of primary angioedema in the Brazilian population
CL Veronez, AR Mendes, CS Leite, CP Gomes… - The Journal of Allergy …, 2021 - Elsevier
Background Primary angioedema (PA) is a complex disorder, presenting multiple hereditary
(hereditary angioedema) and acquired subtypes (acquired angioedema). Despite a very …
(hereditary angioedema) and acquired subtypes (acquired angioedema). Despite a very …
The expanding spectrum of mutations in hereditary angioedema
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 …
(HAE) has increased at a parallel pace with the development of new molecular tools. The …
First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual
JA Rodríguez, CF Narváez - Journal of Clinical Immunology, 2018 - Springer
Hereditary angioedema (HAE) is a heterogeneous genetic disease caused by a deficit in C1
inhibitor (C1-INH) and clinically characterized by sudden events of edema, swelling, and …
inhibitor (C1-INH) and clinically characterized by sudden events of edema, swelling, and …
[HTML][HTML] Screening for type II hereditary angioedema—the “poor man's c1-inhibitor function”
AK Jindal, V Chiang, P Barman, A Sil, S Chawla… - Journal of Allergy and …, 2024 - Elsevier
Background Hereditary angioedema (HAE) is a rare genetic disease. Patients with type II
HAE have normal or elevated C1-inhibitor (C1-INH) levels but C1-INH protein is …
HAE have normal or elevated C1-inhibitor (C1-INH) levels but C1-INH protein is …
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema
V Bafunno, D Firinu, M D'Apolito, G Cordisco… - Journal of Allergy and …, 2018 - Elsevier
Background Hereditary angioedema (HAE) is a rare genetic disease usually caused by
mutation in the C1 inhibitor or the coagulation Factor XII gene. However, in a series of …
mutation in the C1 inhibitor or the coagulation Factor XII gene. However, in a series of …
National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia
A Kanepa, I Nartisa, D Rots, L Gailite, H Farkas… - Allergy, Asthma & …, 2023 - Springer
Background Hereditary angioedema (HAE) is a rare and life-threatening inborn error of
immunity. HAE is mostly caused by pathogenic variations in the serine protease inhibitor …
immunity. HAE is mostly caused by pathogenic variations in the serine protease inhibitor …
[HTML][HTML] The multifactorial impact of receiving a hereditary angioedema diagnosis
J Raasch, MC Glaum, M O'Connor - World Allergy Organization Journal, 2023 - Elsevier
Hereditary angioedema (HAE) is a rare, chronic, debilitating genetic disorder characterized
by recurrent, unpredictable, and potentially life-threatening episodes of swelling that …
by recurrent, unpredictable, and potentially life-threatening episodes of swelling that …
In search of an association between genotype and phenotype in hereditary angioedema due to C1-INH deficiency
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is caused by mutations
affecting the SERPING1 gene. Adult patients (≥ 18 years old) diagnosed with C1-INH-HAE …
affecting the SERPING1 gene. Adult patients (≥ 18 years old) diagnosed with C1-INH-HAE …
Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients
M Rozevska, A Kanepa, S Purina, L Gailite… - Allergy, Asthma & …, 2024 - Springer
Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific
symptoms and overlapping conditions. This study focuses on the genetic basis of HAE …
symptoms and overlapping conditions. This study focuses on the genetic basis of HAE …
Hereditary angioedema: 24 years of experience in a Portuguese Reference Center.
C Varandas, SL Silva, C Costa, R Limão… - European Annals of …, 2022 - europepmc.org
Hereditary angioedema (HAE) poses a high burden of disease, being its epidemiological
and clinical data heterogeneous among countries, with no recent published studies …
and clinical data heterogeneous among countries, with no recent published studies …