Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations
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DOI：
10.1016/j.jaci.2006.05.004
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发表时间：
2006-07-01
影响因子：
14.2
通讯作者：
Novak, Natalija
中科院分区：
文献类型：
--
作者：
Weidinger, Stephan;Illig, Thomas;Novak, Natalija
背景：特应性皮炎（AD）是一种具有很强遗传背景的慢性炎症性皮肤病。 AD 的特征之一和该疾病的致病因素是基于表皮分化的主要缺陷的表皮皮肤屏障受损。目的：最近，据报道，丝聚合蛋白基因 (FLG) 中的 2 个功能丧失突变（R501X 和 2282der14）会导致寻常鱼鳞病（最常见的遗传性角化皮肤病之一），也是 AD 的强烈诱发因素。
Background: Atopic dermatitis (AD) is a chronic inflammatory skin disease with a strong genetic background. One of the characteristic features of AD and causative factor for the disease is an impaired epidermal skin barrier based on a primary defect of epidermal differentiation. Objectives: Recently, 2 loss-of-function mutations (R501X and 2282der14) in the filaggrin gene (FLG) that cause ichthyosis vulgaris, one of the most common inherited skin disorders of keratinization, have been reported to be strong predisposing factors for AD.