X-linked severe combined immunodeficiency

{
  "id": "MLC-T-CHM-012745",
  "term": "X-linked severe combined immunodeficiency",
  "field": "Chemistry",
  "definition": "A severe primary immunodeficiency disorder characterized by the absence or dysfunction of T lymphocytes and natural killer cells, leading to profound susceptibility to infections. It is caused by mutations in the gene encoding the common gamma chain of cytokine receptors, located on the X chromosome. This condition is often referred to as \"bubble boy disease\" due to the need for extreme isolation.",
  "synonyms": [
    "combined immunodeficiency"
  ],
  "subject": "Chemistry and Human Health",
  "see_also": [
    "B lymphocyte",
    "T lymphocyte",
    "natural killer cell",
    "severe combined immunodeficiency"
  ],
  "references": [
    "PAC, 2012, 84, 1113. 'IUPAC glossary of terms used in immunotoxicology (IUPAC Recommendations 2012)' on page 1260 (https://doi.org/10.1351/PAC-REC-11-06-03)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/x-linked-severe-combined-immunodeficiency/"
}