In addition to “classic IPEX”, a group of patients with an IPEX- like phenotype without pathological variant in FOXP3 gene emerged, and several genes, such as IL2RA, STAT5b, GOF in STAT1/3, LRBA and CTLA4, have been identified as causative genes for IPEX-like phenotype. The gene discussed is IL2RA; the disease is immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome.