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  Authority of Polish Society of Allergology

vol 14. no 2. June 2009  

 Review articles
Filaggrin and its role in the pathomechanism of allergic disease
Marcin Kurowski, Marek L. Kowalski

Filaggrin is one of the crucial proteins conditioning unaffected epithelial
barrier function. Barrier function of the epithelium may be
impaired as a result of presence of mutations within gene coding
for filaggrin protein. Most frequently described mutations of the FLG
gene include R501X and 2282del4. Research has been carried out for
several years on predisposition to skin diseases linked with presence
of FLG gene mutations. At the beginning, filaggrin gene mutations
were proved to play significant role in the development of ichtyosis
vulgaris. It was also shown that presence of R501X and 2282del4
mutations increases rik of devlopment of atopic eczema. In carriers of
both mutations increased risk of asthma was also ascertained, however,
only in those from among them, in whom development of asthma
symptoms was preceded by atopic eczema. This review presents
current development of research on the significance of mutations
in the filaggrin gene. Hypotheses linking presence of mutations with
lower airways allergy symptoms have also been reviewed.

keywords: filagryna, mutacja genowa, atopowe zapalenie, filaggrin, gene mutation, atopic dermatitis, asthma

pages: from 95 to 100

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