X-linked agammaglobulinemia
A genetic immunodeficiency affecting males, characterized by absence of mature B-cells and antibody production.
Full Definition
X-linked agammaglobulinemia (XLA), also known as Bruton's agammaglobulinemia, is a primary immunodeficiency disorder caused by mutations in the BTK gene located on the X chromosome. The condition affects males almost exclusively and results in absent or severely reduced mature B-cells and consequently very low or absent immunoglobulin levels. Patients typically present in infancy or early childhood with recurrent bacterial infections, particularly involving the respiratory tract and central nervous system. The disorder was historically the first primary immunodeficiency to be described and requires lifelong immunoglobulin replacement therapy.
Usage
Usage note: Hyphenate 'X-linked'; note the double 'm' in 'agammaglobulinemia'; abbreviated as 'XLA'.
In Context
- "Genetic testing confirmed X-linked agammaglobulinemia with a pathogenic BTK gene mutation." — Genetic consultation report
- "The male infant's absent B-cells and undetectable immunoglobulins were diagnostic of X-linked agammaglobulinemia." — Diagnostic summary