Celiac disease (CD) is an immune-mediated systemic disorder elicited by gluten and related prolamines in genetically susceptible individuals, with the presence of a variable combination of gluten-dependent clinical manifestations, CD-specific antibodies, such as IgA autoantibodies against tissue transglutaminase (anti-TG2), human leukocyte antigen (HLA)-DQ2 or HLA-DQ8 haplotypes, and enteropathy [1]. The gene discussed is TGM2; the disease is Cowden disease.