Rare occurrence of common filaggrin mutations in Turkish children with food allergy and atopic dermatitis


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Acar N. V. , Cavkaytar Ö. , Yilmaz E. A. , Buyuktiryaki B., UYSAL SOYER Ö., ŞAHİNER Ü. M. , ...More

TURKISH JOURNAL OF MEDICAL SCIENCES, vol.50, no.8, pp.1865-1871, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 8
  • Publication Date: 2020
  • Doi Number: 10.3906/sag-1910-162
  • Title of Journal : TURKISH JOURNAL OF MEDICAL SCIENCES
  • Page Numbers: pp.1865-1871
  • Keywords: Atopic dermatitis, filaggrin, food allergy, R501X, 2282del4, R2447X, S3247X, OF-FUNCTION MUTATIONS, NULL MUTATIONS, ICHTHYOSIS VULGARIS, FUNCTION VARIANTS, RISK-FACTORS, FLG GENE, ASTHMA, ECZEMA, DIAGNOSIS, SENSITIZATION

Abstract

Background/aim: Filaggrin is a protein complex involved in epidermal differentiation and skin barrier formation. Mutations of the filaggrin gene (FLG) arc associated with allergen sensitization and allergic diseases like atopic dermatitis (AD), allergic rhinitis, food allergy (FA), and asthma. The aim of the study is to reveal the frequency of change in the FIG gene and determine the association between FIG loss-of-function (LOF) mutations and FA and/or AD in Turkish children.