Ataxia-telangiectasia (A-T) is a rare, inherited condition that primarily affects the nervous system and immune system, and can cause a deficiency in T cells. A-T is caused by a mutation in the ATM gene, which is responsible for cell cycle control and DNA repair.
Generally, people with A-T have a weakened immune system, which makes them more likely to get infections. This is because their T cells (a type of white blood cell) are not able to function properly. T cells are responsible for recognizing and destroying foreign substances in the body, such as bacteria and viruses. When T cells are not functioning optimally, the body is unable to fight off infections as effectively.
People with A-T are also at risk for developing certain types of cancer, such as leukemia and lymphoma. This is because the mutation in the ATM gene affects the body’s ability to repair damaged DNA, which can lead to an increased risk of cancer.
In addition to the weakened immune system, people with A-T can also develop neurological symptoms, such as ataxia (lack of muscle coordination), poor balance, and difficulty speaking or swallowing. These symptoms can become worse over time.
Although there is no cure for A-T, there are treatments available that can help to manage the symptoms. These include physical therapy, medications, and specialized diets. It is also important for people with A-T to get regular checkups and screenings for cancer, as early detection and treatment can improve outcomes.
In conclusion, A-T is a rare, inherited condition that can cause a deficiency in T cells and weaken the immune system. It can also cause neurological symptoms and increase the risk of certain types of cancer. Although there is no cure for A-T, there are treatments available that can help to manage the symptoms.