Genotype-phenotype correlations in patients with hereditary angioedema
| Full text | |
| Author(s): Show less - |
Veronez, Camila Lopes
[1]
;
Moreno, Adriana S.
[2]
;
Constantino-Silva, Rosemeire Navickas
[3]
;
Maia, Luana S. M.
[2]
;
Ferriani, Mariana P. L.
[2]
;
Castro, Fabio F. M.
[4]
;
Valle, Solange Rodrigues
[5]
;
Nakamura, Victor Koji
[1]
;
Cagini, Nathalia
[1]
;
Goncalves, Rozana Fatima
[6]
;
Mansour, Eli
[7]
;
Serpa, Faradiba Sarquis
[8]
;
Coelho Dias, Gabriela Andrade
[9]
;
Piccirillo, Miguel Alberto
[10]
;
Toledo, Eliana
[11]
;
Bernardes, Marli de Souza
[12]
;
Cichon, Sven
[13, 14, 15]
;
Stieber, Christiane
[16, 17, 18, 19]
;
Arruda, L. Karla
[2]
;
Pesquero, Joao Bosco
[1]
;
Grumach, Anete Sevciovic
[3]
Total Authors: 21
|
| Affiliation: Show less - | [1] Univ Fed Sao Paulo, Dept Biophys, Ctr Res & Mol Diagnost Genet Dis, Sao Paulo, SP - Brazil
[2] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Med, Ribeirao Preto, SP - Brazil
[3] Fac Med ABC, Div Clin Immunol, Santo Andre, SP - Brazil
[4] Univ Sao Paulo, Sch Med, Div Allergy & Clin Immunol, Sao Paulo, SP - Brazil
[5] Fed Univ Rio Janeiro, Cidade Univ, Rio De Janeiro, RJ - Brazil
[6] Private Allergy & Immunol Clin, Belo Horizonte, MG - Brazil
[7] Univ Estadual Campinas, Sch Med, Div Clin Allergy & Immunol, Campinas, SP - Brazil
[8] Santa Casa de Misericordia Vitoria, Sch Med, Vitoria, ES - Brazil
[9] Univ Estado Rio De Janeiro, Div Allergy & Immunol, Rio De Janeiro, RJ - Brazil
[10] Private Allergy & Immunol Clin, Londrina, PR - Brazil
[11] State Univ Sao Jose do Rio Preto, Sch Med, Sao Jose Do Rio Preto, SP - Brazil
[12] Private Allergy & Immunol Clin, Foz Do Iguacu, PR - Brazil
[13] Univ Hosp Basel, Div Med Genet, Basel - Switzerland
[14] Univ Basel, Dept Biomed, Basel - Switzerland
[15] Res Ctr Juelich, Inst Neurosci & Med INM 1, Julich - Germany
[16] Univ Bonn, Sch Med, Inst Human Genet, Bonn - Germany
[17] Univ Hosp Bonn, Bonn - Germany
[18] Univ Bonn, Life & Brain Ctr, Dept Genom, Bonn - Germany
[19] Univ Hosp Bonn, Ctr Rare Dis Bonn, Bonn - Germany
Total Affiliations: 19
|
| Document type: | Journal article |
| Source: | JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE; v. 6, n. 4, p. 1209+, JUL-AUG 2018. |
| Web of Science Citations: | 10 |
| Abstract | |
BACKGROUND: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare condition with clinical features similar to those of HAE with C1-INH deficiency. Mutations in the F12 gene have been identified in subsets of patients with HAE with normal C1-INH, mostly within families of European descent. OBJECTIVES: Our aim was to describe clinical characteristics observed in Brazilians from 42 families with HAE and F12 gene mutations (FXII-HAE), and to compare these findings with those from other populations. METHODS: We evaluated a group of 195 individuals, which included 102 patients clinically diagnosed with FXII-HAE and their 93 asymptomatic relatives. RESULTS: Genetic analysis revealed that of the 195 subjects, 134 individuals (77.6% females) carried a pathogenic mutation in F12. The T328K substitution was found in 132 individuals, and the c.971\_1018 + 24del72 deletion was found in 2 patients. The mean age at onset of symptoms in patients with FXII-HAE was 21.1 years. The most common symptoms were subcutaneous edema (85.8% of patients), abdominal pain attacks (69.7%), and upper airway edema (32.3%). Of male individuals carrying F12 mutations, 53.3% (16 of 30) were symptomatic. Compared with reports from Europe, fewer female patients (68.6%) reported an influence of estrogen on symptoms. CONCLUSIONS: Our study included a large number of patients with FXII-HAE, and, as the first such study conducted in a South American population, it highlighted significant differences between this and other study populations. The high number of symptomatic males and patients with estrogen-independent FXII-HAE found here suggests that male sex and the absence of a hormonal influence should not discourage clinicians from searching for F12 mutations in cases of HAE with normal C1-INH. (C) 2017 American Academy of Allergy, Asthma \& Immunology. (AU) | |
| FAPESP's process: | 11/24142-3 - Plasma kallikrein role in hereditary angioedema: genetics and functional analysis |
| Grantee: | Camila Lopes Veronez |
| Support type: | Scholarships in Brazil - Doctorate |
| FAPESP's process: | 11/23439-2 - Hereditary angioedema: importance of molecular analysis in diagnosis and pathogenesis Among Brazilian families |
| Grantee: | Adriana Santos Moreno |
| Support type: | Scholarships in Brazil - Post-Doctorate |
| FAPESP's process: | 13/02661-4 - Genetics of hereditary angioedema |
| Grantee: | João Bosco Pesquero |
| Support type: | Regular Research Grants |
| FAPESP's process: | 14/27198-8 - Establishment of a center of genetic and molecular research for clinical challenges |
| Grantee: | João Bosco Pesquero |
| Support type: | Research Projects - Thematic Grants |