Ataxia-telangiectasia (A-T) is a rare, inherited genetic disorder that affects the central nervous system, immune system, and other body systems. People with A-T often have difficulty walking, poor coordination, and an increased risk of cancer. They also often have a deficiency in immunoglobulin A (IgA), an antibody that is essential for fighting off infections. In this article, we will discuss why there is an IgA deficiency in A-T and what this means for those affected.
What is IgA Deficiency?
IgA deficiency is a condition in which the body does not produce enough of the antibody immunoglobulin A (IgA). IgA is an important part of the immune system and helps to protect the body from infection by recognizing and fighting off invading bacteria, viruses, and other germs. People with IgA deficiency may be more susceptible to certain infections, including upper respiratory tract infections, sinus infections, and ear infections.
What Causes IgA Deficiency in A-T?
The exact cause of IgA deficiency in A-T is not known, but it is thought to be related to a mutation in the ATM gene. This gene provides instructions for making a protein that helps to maintain the stability of the cell's genetic material. In people with A-T, a mutation in the ATM gene leads to an abnormal or missing protein, which can affect the body's ability to produce IgA.
What Does IgA Deficiency Mean for People with A-T?
IgA deficiency can cause people with A-T to be more prone to certain infections. Since IgA helps to protect the body from infection, a lack of this antibody can make it easier for bacteria, viruses, and other germs to enter the body and cause illness. In addition, people with A-T and IgA deficiency may be more likely to develop serious or life-threatening infections. It is important for people with A-T and IgA deficiency to take steps to reduce their risk of infections, such as practicing good hand hygiene, avoiding contact with people who are sick, and getting vaccinated against certain infections.