Author's response to the comment to ‘Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis’

FLG mutations play a causal role in the development of ichthyosis vulgaris (IV) and are known to be a predisposing factor for atopic dermatitis (AD) in European and Asian populations. However, it remains a matter of debate how loss of function of filaggrin leads to AD. Skin barrier dysfunction due to the loss of structural proteins in the epidermis makes it easy for allergens to invade, and sensitization to the allergens, increases in serum IgE, and dermatitis follow. In addition, loss of filaggrin results in increased pH in the stratum corneum, increased serine protease activity and hyper-activation of cytokine cascades.

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