Question

What is the estimated frequency of Bruton agammaglobulinemia (XLA) in live births?

A. 1 in 700 to 1 in 3,000
B. 1 in 250,000 to 1 in 379,000
C. 1 in 10,000 to 1 in 50,000
D. Extremely rare, a few hundred infants in the United States

Answer 1

Option (B), The estimated frequency of Bruton agammaglobulinemia (XLA) in live births is 1 in 250,000 to 1 in 379,000, due to the defective BTK gene on the X chromosome causing defective B cell differentiation.

Step-by-step explanation:

The estimated frequency of Bruton agammaglobulinemia (XLA) in live births is B. 1 in 250,000 to 1 in 379,000. XLA is a genetic condition where the defective BTK gene on the X chromosome leads to a lack of specific antibody production due to defective B cell differentiation.

Individuals with this condition have a reduced ability to fight off certain bacterial infections, as their immune systems fail to produce sufficient antibodies.

However, their cell-mediated immunity remains intact, so they are not as vulnerable to viral or intracellular pathogens.