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The role of filaggrin loss-of-function mutations in atopic dermatitis

O'Regan, Grainne M; Irvine, Alan D

Current Opinion in Allergy and Clinical Immunology: October 2008 - Volume 8 - Issue 5 - p 406–410
doi: 10.1097/ACI.0b013e32830e6fb2
Genetics and epidemiology: Edited by Michael Kabesch

Purpose of review To provide a comprehensive summary of recent genetic advances as they relate to the pathogenesis of atopic dermatitis.

Recent findings Atopic dermatitis is a common inflammatory skin disease with a complex cause, resulting from an elaborate interplay between environmental, immunological and genetic factors. The disease is often the prelude to an atopic diathesis that includes asthma and other allergic diseases. The identification of mutations in the barrier protein filaggrin as conferring major susceptibility to atopic dermatitis and atopic dermatitis related asthma has reconfigured our understanding of disease mechanisms and highlights the importance of epidermal barrier disruption as a primary event in the disease.

Summary In this review we highlight recent advances in our understanding of how filaggrin might influence the environmental-immune interface, impacting disease penetrance, severity and trajectory, and the implications for both research and therapeutics in this field. Focusing on the downstream biological consequences of altered filaggrin expression and the sequence of immunological and environmental triggers that ensue will provide the rationale for targeted therapeutics capable of restoring or preventing disruption of barrier function.

Department of Paediatric Dermatology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland

Correspondence to Professor Alan D. Irvine, Department of Paediatric Dermatology, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland Tel: +353 1 4282532; fax: +353 1 4282651; e-mail: irvinea@tcd.ie

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