X-linked agammaglobulinemia also known as Bruton disease or is a hereditary condition due to a mutation in the Bruton tyrosine kinase (BTK) gene located on the long arm of the X-chromosome. BTK is critical in the maturation of pre-B cells to mature B cells.
On this page:
Clinical presentation
Recurring bacterial infectious episodes (e.g. pneumonia, ear infection, osteomyelitis, sinusitis) that respond well to antibiotics but if not treated, evolve into septicemia. Tonsillar aplasia may be evident.
Mainly presents after 6 to 9 months of age when maternal antibodies wear off.
Pathology
Serology
significantly reduced levels of mature B lymphocytes (<1% of normal) in their peripheral blood
agammaglobulinaemia evident on the electrophoretic and immunoelectrophoretic traces of plasma proteins
History and etymology
The disease was first elucidated by Bruton in 1952, for whom the gene is named.
Unable to process the form. Check for errors and try again.