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  • From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome
  • Blanco Quiros A; Arranz Sanz E; Bernardo Ordiz D; Garrote Adrados JA
  • Allergol Immunopathol (Madr) 2009[Jul]; 37 (4): 208-15
  • The term autoimmune enteropathy (AIE) was applied to a form of "intractable diarrhoea" with serum gut autoantibodies, characterized by male predominance, early onset, poor response to parenteral nutrition and several autoimmune diseases, mainly type 1 diabetes. In recent years the vague concept of AIE has became more precise thanks to the discovery of its genetic and molecular basis. The FOXP3 molecule is crucial for the generation and maturation of regulatory T cells (Treg) expressing CD4+ and CD25+ molecules. Mutations of the FOXP3 gene, located in X chromosome, produce a syndrome with Immune dysfunction, Polyendocrinopathy, Enteropathy and X-linked inheritance (IPEX). The majority of the ancient so-called AIE cases probably correspond to the new IPEX syndrome, even in female patients who may have some autosomal genetic variants. Besides FOXP3, other molecules are likely to be involved in the generation and function of Treg and its deficiency may also enhance autoimmune disease and IPEX-like syndromes. Meanwhile, the important pathogenic role previously ascribed to gut autoantibodies has vanished, with it remaining as having only certain screening usefulness.
  • |Autoantibodies/blood[MESH]
  • |Autoimmune Diseases/*diagnosis/immunology/therapy[MESH]
  • |CD8-Positive T-Lymphocytes/immunology/metabolism[MESH]
  • |Female[MESH]
  • |Forkhead Transcription Factors/immunology/metabolism[MESH]
  • |Genetic Diseases, X-Linked/*diagnosis/immunology[MESH]
  • |Humans[MESH]
  • |Intestinal Diseases/*diagnosis/immunology/therapy[MESH]
  • |Male[MESH]
  • |Polyendocrinopathies, Autoimmune/*diagnosis/immunology/therapy[MESH]
  • |Syndrome[MESH]
  • |T-Lymphocytes, Regulatory/immunology/metabolism[MESH]





  • *{{pmid19912978}}
    *<b>[http://www.kidney.de/mlpefetch.php?search=19912978 From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome ]</b> Allergol Immunopathol (Madr) 2009; 37(4) ; 208-15 Blanco Quiros A; Arranz Sanz E; Bernardo Ordiz D; Garrote Adrados JA

        *19912978*

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    Allergol Immunopathol (Madr)

    208 4.37 2009