Nucleotide binding oligomerization domain containing 2 (NOD2) gene variants are associated with Crohn's disease (CD), Blau syndrome and most recently with a polygenic autoinflammatory disease with onset in adult called NOD2-associated autoinflammatory disease (NAID).<h4>Objective</h4>The aim of our study is to describe a pediatric cohort of patients with autoinflammatory disease carrying <i>NOD2</i> variants and to evaluate genotype-phenotype correlation.<h4>Methods</h4>Twenty-five children with autoinflammatory disease and <i>NOD2</i> variants were enrolled in the study. This evidence concerns the gene NOD2 and Crohn disease.