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|Title:||Homozygosity for a factor xii mutation in one female and one male patient with hereditary angio-oedema|
|Authors:||Grumach, Anete Sevciovic|
Veronez, Camila Lopes [UNIFESP]
Cagini, Nathalia [UNIFESP]
Constantino-Silva, Rosemeire Navickas
Noethen, M. M.
Pesquero, João Bosco [UNIFESP]
HomozygosityNormal C1 Inhibitor
|Citation:||Allergy. Hoboken, v. 71, n. 1, p. 119-123, 2016.|
|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.|
|Appears in Collections:||Artigo|
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