Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema.
Allergy
; 71(1): 119-23, 2016 Jan.
Article
em En
| MEDLINE
| ID: mdl-26392288
ABSTRACT
Hereditary angio-oedema (HAE) with normal C1 inhibitor is associated with heterozygous mutations in the factor XII gene (FXII-HAE). We report two Brazilian FXII-HAE families segregating the mutation c.983 C>A (p.Thr328Lys). In each family, one patient with a homozygous mutation was found. The homozygous female patient in family 1 displayed a severe phenotype. However, this falls within the clinical phenotype spectrum reported for heterozygous female mutation carriers. The homozygous male patient in family 2 also showed a severe phenotype. This finding is intriguing, as to our knowledge, it is the first such report for a male FXII-HAE mutation carrier. In the rare instances in which male mutation carriers are affected, a mild phenotype is typical. The present findings therefore suggest that homozygous FXII-HAE mutation status leads to a severe phenotype in females and males, and to an increased risk of manifest symptoms in the latter.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fator XII
/
Angioedemas Hereditários
/
Homozigoto
/
Mutação
Limite:
Adult
/
Aged
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Female
/
Humans
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Male
/
Middle aged
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Allergy
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Brasil