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.

Summary

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.

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