Wiskott-Aldrich syndrome

{
  "id": "MLC-T-CHM-012707",
  "term": "Wiskott-Aldrich syndrome",
  "field": "Chemistry",
  "definition": "A rare X-linked recessive immunodeficiency disorder characterized by a triad of symptoms: eczema, thrombocytopenia (low platelet count), and recurrent infections. It results from a mutation in the WAS gene, leading to defects in immune cell function, particularly T cells and B cells. This syndrome significantly impairs both humoral and cell-mediated immunity.",
  "synonyms": [
    "eczema-thrombocytopenia-immunodeficiency syndrome"
  ],
  "subject": "Chemistry and Human Health",
  "see_also": [
    "cell-mediated immunity",
    "eczema",
    "immunodeficiency",
    "idiopathic thrombocytopenic purpura"
  ],
  "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/wiskott-aldrich-syndrome/"
}