Video - X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA) is an x-linked genetic disorder of the immune system caused by mutations in the BTK (Bruton's tyrosine kinase) gene. XLA primarily affects males, as they only have one X chromosome, while females have two and are typically carriers of the mutated gene. Individuals with XLA have a deficiency in B cells. This results in an inability to mount an effective immune response against bacterial infections, leading to recurrent and often severe infections, especially of the respiratory tract and ears. The symptoms of XLA typically appear in early childhood, and affected individuals may experience recurrent bacterial infections, chronic diarrhea, and failure to thrive.