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https://repositorio.unifesp.br/handle/11600/49637
Title: | Homozygosity for a factor xii mutation in one female and one male patient with hereditary angio-oedema |
Authors: | Grumach, Anete Sevciovic Stieber, C. Veronez, Camila Lopes [UNIFESP] Cagini, Nathalia [UNIFESP] Constantino-Silva, Rosemeire Navickas Cordeiro, E. Noethen, M. M. Pesquero, João Bosco [UNIFESP] Cichon, S. |
Keywords: | Factor Xii Hereditary Angio-Oedema HomozygosityNormal C1 Inhibitor F12 Gene Normal C1-Inhibitor Family Thr328lys Women |
Issue Date: | 2016 |
Publisher: | Wiley-blackwell |
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. |
URI: | http://repositorio.unifesp.br/handle/11600/49637 |
ISSN: | 0105-4538 |
Other Identifiers: | https://doi.org/10.1111/all.12769 |
Appears in Collections: | Artigo |
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