Filaggrin mutations associated with skin and allergic diseases.

  title={Filaggrin mutations associated with skin and allergic diseases.},
  author={Alan D. Irvine and W.H. Irwin McLean and Donald Y. M. Leung},
  journal={The New England journal of medicine},
  volume={365 14},
Mutations in the filaggrin gene are associated with a broad range of skin and allergic diseases. The biology of this molecule and the role of mutations in its altered function offer new insights into a range of conditions not previously thought to be related to one another. 

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It is shown that FFLG mutations compromise skin barrier functions and increase risk of atopic dermatitis, and effects on other skin diseases using unique data from the Danish registers are studied.

Atopic diseases by filaggrin mutations and birth year

This work investigated whether the prevalence of filaggrin mutations increased in different birth cohorts in adults from the general population in Denmark.

Filaggrin mutations in relation to skin barrier and atopic dermatitis in early infancy *

Loss‐of‐function mutations in the skin barrier gene filaggrin (FLG) increase the risk of atopic dermatitis (AD), but their role in skin barrier function, dry skin and eczema in infancy is unclear.

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Filaggrin mutations and atopy: consequences for future therapeutics

The skin barrier disruptions of atopic eczema associated with loss-of-function mutations in filaggrin are thought to provide a nidus for allergic sensitization to food and aeroallergens, which can lead to increased allergic disease.

Filaggrin Mutations and the Atopic March

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Impact of atopic dermatitis and loss‐of‐function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis

It is not clear whether FLG mutations are an independent risk factor for ICD or whether the risk is mediated by AD, but loss‐of‐function mutations in the filaggrin gene (FLG) are both associated with chronic irritant contact dermatitis.

Filaggrin loss-of-function mutations and association with allergic diseases.

Observations on filaggrin provide striking new insights into the etiology of atopic diseases and might pave the way for the development of new therapeutic approaches.

Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis.

Results demonstrate a prominent role for the epidermal barrier in atopic disease and have important implications for the study of complex traits.

Wide spectrum of filaggrin‐null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations

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Filaggrin in atopic dermatitis.

Fleshing out filaggrin phenotypes.

  • A. Irvine
  • Biology
    The Journal of investigative dermatology
  • 2007
Early data suggest that FLG-associated eczema may be more persistent, more likely to have palmar hyperlinearity, and more likely than others to be associated with asthma.

Filaggrin mutations, atopic eczema, hay fever, and asthma in children.

Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.

Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.

The data suggest that disrupting epidermal differentiation via different pathways can increase phenotypic severity, and due to the high population frequency of FLG mutations, filaggrin is a possible genetic modifier in other genodermatoses.

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

It is shown that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis.