Immunodysregulation-polyendocrinopathy-enteropathy, X-linked

{
  "id": "MLC-T-CHM-005666",
  "term": "Immunodysregulation-polyendocrinopathy-enteropathy, X-linked",
  "field": "Chemistry",
  "definition": "A rare genetic disorder characterized by severe immune system dysfunction, multiple endocrine gland abnormalities, and inflammatory bowel disease. It is caused by mutations in the FOXP3 gene, which is located on the X chromosome. This condition leads to a breakdown in immune tolerance and widespread autoimmune manifestations.",
  "synonyms": [
    "IPEX syndrome"
  ],
  "subject": "Chemistry and Human Health",
  "see_also": [
    "Foxp3",
    "dermatitis",
    "diabetes mellitus type 1",
    "hemolytic anemia",
    "autoimmune thyroiditis"
  ],
  "references": [
    "PAC, 2012, 84, 1113. 'IUPAC glossary of terms used in immunotoxicology (IUPAC Recommendations 2012)' on page 1186 (https://doi.org/10.1351/PAC-REC-11-06-03)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/immunodysregulation-polyendocrinopathy-enteropathy-x-linked/"
}