X-linked agammaglobulinemia

{
  "id": "MLC-T-CHM-012744",
  "term": "X-linked agammaglobulinemia",
  "field": "Chemistry",
  "definition": "A primary immunodeficiency disorder characterized by the absence of mature B cells and very low levels of immunoglobulins in the blood. This condition is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene located on the X chromosome, leading to a block in B cell development. Affected individuals are highly susceptible to recurrent bacterial infections.",
  "synonyms": [
    "agammaglobulinemia",
    "Bruton agammaglobulinemia",
    "Bruton syndrome"
  ],
  "subject": "Chemistry and Human Health",
  "see_also": [
    "mature B cell"
  ],
  "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-agammaglobulinemia/"
}