In this disease, patients are deficient for Th17 cells but also display typical signs and symptoms of immune dysregulation, such as IgE hyperproduction and eczema, both of which are typically associated with other well-described loss-of-tolerance diseases such as immunodeficiency, polyendocrinopathy, enteropathy, X-linked syndrome [forkhead box protein 3 (FOXP3) mutations], autoimmune, polyendocrinopathy, candidiasis, ectodermal dystrophy syndrome (autoimmune regulator mutations), and Omenn’s syndrome (recombination-activating gene mutations) (23). This evidence concerns the gene IGHE and polyendocrinopathy.