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lüll IPEX as a result of mutations in FOXP3 van der Vliet HJ; Nieuwenhuis EEClin Dev Immunol 2007[]; 2007 (ä): 89017Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in the FOXP3 gene that result in the defective development of CD4+CD25+ regulatory T cells which constitute an important T cell subset involved in immune homeostasis and protection against autoimmunity. Their deficiency is the hallmark of IPEX and leads to severe autoimmune phenomena including autoimmune enteropathy, dermatitis, thyroiditis, and type 1 diabetes, frequently resulting in death within the first 2 years of life. Apart from its clinical implications, IPEX illustrates the importance of immunoregulatory cells such as CD4+CD25+ regulatory T cells.|*Genetic Diseases, X-Linked[MESH]|*Polyendocrinopathies, Autoimmune/genetics/immunology/pathology[MESH]|Forkhead Transcription Factors/*genetics[MESH]|Humans[MESH]|Mutation[MESH]|T-Lymphocytes, Regulatory/*immunology[MESH] |