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Arq Gastroenterol. 2004 Apr-Jun;41(2):121-8. Epub 2004 Oct 27.

[Genetics and immunopathogenics aspects of the celiac disease: a recent vision].

[Article in Portuguese]

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Laboratório de Imunopatologia, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR.



Celiac disease, or gluten-sensitive enteropathy, is a strongly inherited condition. Although the genetic association of CD with the DQ2 and DQ8 HLA haplotypes has been known for long, others HLA and non-HLA genes are also important in the development of the disease. Celiac disease results of the combined effect of different normally functioning genes' products. The tissue damage in celiac disease is immunologically mediated and several effector mechanisms are responsible for the disease expression. The interplay between genetic, immunological and environmental factors explains the large spectrum of clinical, histological and serological alterations observed in the different stages of the disease development, pointing out to the polygenic nature of celiac disease.


The recent advances in the understanding of the immunopathogenesis, genetics and diagnoses of celiac disease have allowed the revision of strict concepts and previous criteria and their adequation to the new evidences, aiming a better diagnostic and orientation to celiac patients and relatives.

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