Article ID Journal Published Year Pages File Type
2818002 Gene 2012 4 Pages PDF
Abstract

Crohn disease (CD) is a multifactorial disorder affecting mainly young adults. Sometimes, however, it can present in the first year of life (Early onset Crohn disease (EOCD)) showing an unpredictable course and can often be more severe than at older ages. Some cases have been associated to an underlying primary immunodeficiency such as IL10R deficiency. We studied the functional response to IL-10 and the genotype of IL-10 receptor in four patients with early onset crohn-like colitis. We found an IL10R variant, which may be associated with a decreased response to the cytokine in one patient. Further studies to determine its pathogenic effect should be performed. In addition IL-10 mediated inhibition of LPS-induced TNFα expression was measured in patient's monocytes.

► Early onset Crohn disease (EOCD) is a multifactorial disorder. ► Genetic investigation may identify earlier children who risk EOCD. ► The K47E IL10R variant may be associated a disregulation of cytokine secretion.

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Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
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