Filaggrin mutations associated with skin and allergic diseases.

@article{Irvine2011FilaggrinMA,
  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},
  year={2011},
  volume={365 14},
  pages={
          1315-27
        }
}
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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Loss-of-function mutations in the filaggrin gene have commonly been described in patients with AD and are associated with an increased risk of atopic sensitization in these individuals leading to asthma and allergic rhinitis.

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105 References

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

Background Null mutations in the filaggrin gene cause ichthyosis vulgaris (IV) and predispose to atopic dermatitis (AD), but the prevalent European FLG mutations are rare or absent in Chinese patients with IV and AD.

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Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.

Fleshing out filaggrin phenotypes.

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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.
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