LOC100505658
Understanding Adenosine Deaminase Deficiency (ADA)
Description:
Adenosine deaminase deficiency (ADA) is a rare inherited disorder that affects the immune system. It occurs when the body lacks adenosine deaminase (ADA), an enzyme responsible for breaking down adenosine and deoxyadenosine, naturally occurring substances in the body. Without functional ADA, these substances accumulate and cause severe damage to the immune system.
Associated Diseases:
ADA deficiency is primarily associated with two severe immunodeficiency disorders: Severe combined immunodeficiency (SCID) and DiGeorge syndrome. SCID impairs the development and function of T and B cells, crucial components of the immune system. DiGeorge syndrome, also known as 22q11.2 deletion syndrome, involves a genetic deletion on chromosome 22 and can cause various developmental abnormalities, including ADA deficiency.
Did you Know ?
ADA deficiency affects approximately 1 in 100,000 newborns worldwide. The incidence of SCID, which is mostly caused by ADA deficiency, is estimated to be 1 in 50,000 to 1 in 100,000 live births.
