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Updated: Feb 11, 2026

On-Chip Endothelial Inflammatory Phenotyping
Published on: July 21, 2012
Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype
Martina Girardelli1, Claudia Loganes1, Alessia Pin2
1Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, 'IRCCS 'Burlo Garofolo,' Trieste, Italy.
A rare homozygous mutation in Nucleotide-binding oligomerization domain 2 (NOD2) was identified in an infant with early-onset inflammatory bowel disease (IBD). This mutation caused a gain-of-function, leading to an IBD-like presentation.
Area of Science:
- Immunology
- Genetics
- Molecular Biology
Background:
- Nucleotide-binding oligomerization domain 2 (NOD2) is a crucial intracellular protein in innate immunity.
- Genetic variants in NOD2 are linked to inflammatory bowel disease (IBD) and other inflammatory conditions.
- A case study of an infant with very early-onset IBD identified a rare homozygous NOD2 variant via whole-exome sequencing.
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