WES analysis revealed that he had two coinciding genetic mutations in toll-like receptor 3 (TLR3) and NLRP12. Although the exact mechanistic links between these two genes and his clinical phenotypes could not be determined, the heterozygous frameshift mutation (c.1113_1116delGGAA) in the NLRP12 gene may partially account for his CD-like clinical manifestations. This evidence concerns the gene NLRP12 and Cowden disease.