Open AccessNovel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype
Author(s) -
Martina Girardelli,
Claudia Loganes,
Alessia Pin,
Elisabetta Stacul,
Eva Decleva,
Diego Vozzi,
Gabriele Baj,
Costantino De Giacomo,
Alberto Tommasini,
Anna Monica Bianco
Publication year - 2018
Publication title -
inflammatory bowel diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.932
H-Index - 146
eISSN - 1536-4844
pISSN - 1078-0998
DOI - 10.1093/ibd/izy061
Subject(s) - nod2 , proinflammatory cytokine , mutation , hek 293 cells , missense mutation , phenotype , inflammatory bowel disease , biology , transfection , nonsense mutation , tumor necrosis factor alpha , innate immune system , microbiology and biotechnology , cancer research , immune system , immunology , medicine , inflammation , genetics , cell culture , gene , disease
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 investigated through bioinformatics and functional studies.
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