Associated Papers
Abstracts of the 14th C1-inhibitor Deficiency and Angioedema Workshop.
Unknown Author
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2026
Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights.
Gao H et al.
Journal of Clinical Immunology, 2025
Implementation of genetic diagnosis and personalized management of hereditary angioedema in a Chinese regional center: a community case study of three families.
Du W et al.
Frontiers in Allergy, 2025
The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.
Rupar N et al.
Gene, 2024
Inter-α-trypsin inhibitor heavy chain 4 (ITIH4) as a compensatory protease inhibitor in hereditary angioedema.
Troldborg A et al.
The Journal of Allergy and Clinical Immunology, 2024
Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene.
Markocsy A et al.
The World Allergy Organization Journal, 2024
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Grombirikova H et al.
Journal of Clinical Immunology, 2023
Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema.
Iuraşcu MI et al.
Clinical and Translational Allergy, 2023
National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia.
Kanepa A et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023
Successful treatment of post-pericardiotomy syndrome via C1 inhibitor replacement therapy in a hereditary angioedema patient with Marfan syndrome.
Topyıldız E et al.
The Turkish Journal of Pediatrics, 2023
Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.
Ballonová L et al.
Frontiers in Genetics, 2023
Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.
Wang X et al.
Hereditas, 2022
Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations).
Nabilou S et al.
Immunological Investigations, 2022
Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.
Szabó E et al.
Frontiers in Allergy, 2022
A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain).
Mendoza-Alvarez A et al.
Frontiers in Immunology, 2022
Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.
Hashimura C et al.
Allergy, 2021
Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene.
Guryanova I et al.
Clinical and Molecular Allergy : Cma, 2021
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY et al.
The Lancet Regional Health. Western Pacific, 2020
Genetic variants of SERPING1 gene in Polish patients with hereditary angioedema due to C1 inhibitor deficiency.
Obtulowicz K et al.
Central-european Journal of Immunology, 2020
Genotype-phenotype correlations in Brazilian patients with hereditary angioedema due to C1 inhibitor deficiency.
Maia LSM et al.
Allergy, 2019
Hereditary angioedema: a Chinese perspective.
Liu S et al.
European Journal of Dermatology : Ejd, 2019
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Loules G et al.
Gene, 2018
A Case of Type 2 Hereditary Angioedema With SERPING1 Mutation.
Sim DW et al.
Allergy, Asthma & Immunology Research, 2017
New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
Cagini N et al.
Biological Chemistry, 2016
Hereditary angioedema: molecular and clinical differences among European populations.
Speletas M et al.
The Journal of Allergy and Clinical Immunology, 2015
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
Johnsrud I et al.
Plos One, 2015
Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association.
Andrejević S et al.
Plos One, 2015
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
Bafunno V et al.
Annals of Human Genetics, 2014
Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema.
Martinho A et al.
Molecular Immunology, 2013
Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene.
Rijavec M et al.
Plos One, 2013
Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.
Xu YY et al.
Allergy, 2012
Hereditary angioedema in Japan: genetic analysis of 13 unrelated cases.
Yamamoto T et al.
The American Journal of the Medical Sciences, 2012
Analysis of SERPING1 expression on hereditary angioedema patients: quantitative analysis of full-length and exon 3 splicing variants.
de la Cruz RM et al.
Immunology Letters, 2012
SERPING1 mutations in 59 families with hereditary angioedema.
López-Lera A et al.
Molecular Immunology, 2011
Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.
Pappalardo E et al.
Molecular Immunology, 2008
Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.
Gösswein T et al.
Cytogenetic and Genome Research, 2008
Type II hereditary angioedema: presenting as food allergy.
Williams Y et al.
Digestive Diseases and Sciences, 2007
Phenotypic Heterogeny of Hereditary Angioedema Within a Single Family.
Fails JM et al.
Kansas Journal of Medicine, 0