Genotype‐phenotype correlations in Brazilian patients with hereditary angioedema due to C1 inhibitor deficiency. [Carta]

Genetic Analysis As a Practical Tool to Diagnose Hereditary Angioedema with Normal C1 Inhibitor: A Case Report

Definitive Link of Mutation c.351delC and Development of Hereditary Angioedema in a Large Brazilian Family

S U N D A Y 381 Definitive Link of Mutation c.351delC and Development of Hereditary Angioedema in a Large Brazilian Family M. F. Ferraro, A. S. Moreno, E. Castelli, A. P. Lange, E. A. Donadi, K. Bork, W. Sarti, L. K. Arruda; School of Medicine of Ribeirao Preto, Ribeirao Preto, BRAZIL, Johannes-Gutenberg University, Mainz, GERMANY. RATIONALE:We have previously described the identification of a novel SERPING1 mutation (c.351delC) in members of a large Brazilian family with Hereditary Angioedema (HAE). In the present study, we have aimed to verify the association of this mutation with the development of HAE in this family. METHODS: Family pedigree was constructed with 275 individuals distribu…

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

To cite this article: Ferraro MF, Moreno AS, Castelli EC, Donadi EA, Palma MS, Arcuri HA, Lange AP, Bork K, Sarti W, Arruda LK. A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family.Allergy 2011; 66: 1384–1390. Abstract Background:  Hereditary angioedema is an autosomal dominant disease characterized by episodes of subcutaneous and submucosal edema. It is caused by deficiency of the C1 inhibitor protein, leading to elevated levels of bradykinin. More than 200 mutations in C1 inhibitor gene have been reported. The aim of this study was to analyze clinical features of a large family with an index case of hereditary angioe…