In search of an association between genotype and phenotype in hereditary angioedema due to C1-INH deficiency

D Loli-Ausejo, A López-Lera, C Drouet… - Clinical Reviews in …, 2021 - Springer
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 …

Deletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity

N Mete Gökmen, O Gülbahar, H Onay… - … Archives of Allergy and …, 2019 - karger.com
Background: How genotype affects phenotype in hereditary angioedema with C1 inhibitor
deficiency (C1-INH-HAE) has not been totally clarified. In this study, we investigated the …

Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema

UC Steiner, M Keller, P Schmid… - Clinical & …, 2017 - academic.oup.com
Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal
dominant disease caused by mutations in the C1 inhibitor gene SERPING1. Phenotype and …

SERPING1 mutations in 59 families with hereditary angioedema

A López-Lera, S Garrido, O Roche… - Molecular …, 2011 - Elsevier
Hereditary angioedema due to C1 Inhibitor (C1Inh) deficiency (HAE types I and II) is a rare,
life-threatening disease causing spontaneous edema of the submucosal layers. A cohort of …

C1 inhibitor gene expression in patients with hereditary angioedema: quantitative evaluation by means of real-time RT-PCR

E Pappalardo, LC Zingale, M Cicardi - Journal of allergy and clinical …, 2004 - Elsevier
BACKGROUND: Hereditary angioedema (HAE) is caused by heterozygous defects in the C1
inhibitor (C1-INH) gene (SERPING1/C1NH). In patients' plasma C1-INH levels range …

Overview of SERPING1 variations identified in Hungarian patients with hereditary angioedema

E Szabó, D Csuka, N Andrási, L Varga, H Farkas… - Frontiers in …, 2022 - frontiersin.org
Background Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-
HAE) is a rare autosomal dominant disorder, characterized by recurrent, unpredictable …

Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema

D Firinu, P Colomba, PE Manconi, MP Barca, L Fenu… - Clinical …, 2013 - Elsevier
Hereditary angioedema (HAE) due to C1 inhibitor (C1-INH) deficiency is an autosomal
dominant disorder caused by mutations in SERPING1 gene. More than 200 different …

[HTML][HTML] Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variants

LB Ryø, D Haslund, AB Rovsing, R Pihl… - Journal of Allergy and …, 2023 - Elsevier
Background Patients with hereditary angioedema experience recurrent, sometimes life-
threatening, attacks of edema. It is a rare genetic disorder characterized by genetic 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 …

Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene

YY Xu, JQ Gu, YX Zhi - Clinical and Translational Allergy, 2020 - Springer
Background Hereditary angioedema with deficient and dysfunctional C1 inhibitor (C1-INH-
HAE) is a rare genetic disorder. The majority of the cases with this disease are caused by …