Article
Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype.
Inflammatory bowel diseases - 18 May 2018
Girardelli Martina, Loganes Claudia, Pin Alessia, Stacul Elisabetta, Decleva Eva, Vozzi Diego, Baj Gabriele, De Giacomo Costantino, Tommasini Alberto, Bianco Anna Monica
Abstract excerpt
Background: Nucleotide-binding oligomerization domain 2 (NOD2) is a key intracellular protein of the innate immune system. NOD2 variants are associated with inflammatory bowel disease (IBD) and other inflammatory phenotypes. We described the case of a baby with a very early-onset IBD who is characterized by a rare homozygous variant in NOD2, found through whole-exome sequencing, Its pathogenic effect was...
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