Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis

详细信息    查看全文

• 作者：A. Sekiya ; M. Kono ; H. Tsujiuchi ; T. Kobayashi ; T. Nomura ; M. Kitakawa ; N. Suzuki ; K. Yamanaka ; H. Sueki ; W.H.I. McLean ; H. Shimizu and M. Akiyama
• 刊名：Journal of the European Academy of Dermatology and Venereology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：31
• 期：1
• 页码：158-162
• 全文大小：238K
• ISSN：1468-3083

文摘

Mutations in FLG, which encodes profilaggrin, cause ichthyosis vulgaris (IV) and are an important predisposing factor for atopic dermatitis (AD). IV shows autosomal hemidominant (semidominant) inheritance, and patients with bi-allelic FLG mutations tend to have severe IV phenotypes. However, the effect of bi-allelic FLG mutations on AD incidence and severity remains a subject of controversy.