Bruton X-linked agammaglobulinemia

Definition

Bruton X-linked agammaglobulinemia (XLA) is a genetic disorder where B cells are absent, leading to a lack of immunoglobulins. It results in severe immune deficiency, making individuals highly susceptible to infections.

5 Must Know Facts For Your Next Test

1. XLA is caused by mutations in the BTK gene, which is essential for B cell development.
2. Patients with XLA typically present with recurrent bacterial infections starting in infancy.
3. Diagnosis of XLA involves blood tests showing low or absent levels of all types of immunoglobulins and flow cytometry revealing a lack of mature B cells.
4. Treatment for XLA often includes regular intravenous immunoglobulin (IVIG) therapy to provide passive immunity.
5. XLA is inherited in an X-linked recessive pattern, meaning it primarily affects males.

Review Questions

Related terms

BTK Gene: A gene crucial for the development and maturation of B cells; mutations lead to XLA.

Intravenous Immunoglobulin (IVIG): A therapy used to treat various immune deficiencies by providing necessary antibodies.

B Cells:

A type of white blood cell that produces antibodies; their absence leads to immunodeficiency disorders like XLA.