Printable factfile
Defects in the Bruton tyrosine kinase (BTK) gene cause agammaglobulinemia. Agammaglobulinemia is characterized by failure to produce mature B lymphocyte cells and is associated with a failure of Ig heavy chain rearrangement. Two thirds of cases are familial, and one third of cases are believed to arise from new mutations. Mutations of the BTK gene are found in approximately 80% of patients with agammaglobulinemia.
Alternative names
XLA
Bruton type agammaglobulinemia
X-linked hypogammaglobulinemia
Classification
- Deficiencies predominantly affecting antibody production
- Agammaglobulinemia
Inheritance
X-linked
Cross references
Phenotypically related immunodeficiencies
IDR factfile for X-linked hypogammaglobulinemia with growth hormone deficiency
IDR factfile for BLNK deficiency
IDR factfile for Igα deficiency
Incidence
1: 200,000