Ataxia telangiectasia is inherited in an autosomal recessive modality. This means two copies of the abnormal gene must be present in order for the disease to develop.
The classical form of A-T results from the presence of two A-T mutated (ATM) genes on chromosome 11 leading to total loss of the ATM protein (a protein kinase).
This disease is caused by a defect in the ATM gene, which is responsible for recognizing double-strand breaks in DNA and recruiting the appropriate proteins to fix the break.
One of the hallmarks of this disease include cerebellar defects, which can lead to ataxia.
Spider angiomas are a type of telangiectasia found slightly beneath the surface of the skin. These contain a central red spot and reddish extensions that radiate outwards like a spider's web.
Inability to repair defects in DNA makes individuals extremely sensitive to radiation, which can cause double-stranded breaks in DNA. Individuals with ataxia telangiectasia should not undergo procedures involving radiation unless absolutely critical.
This gene is a tumor suppressor gene and loss of function leads to increased risk of cancer, especially lymphomas and leukemias.
People with Ataxia telangiectasia have increased incidence of cancers, especially lymphomas and leukemia due to loss of the tumor suppressor gene ATM. Treatment of their cancers should avoid use of radiation therapy and chemotherapy drugs that work similarly to radiation therapy as these are extremely toxic for people with this disease.
Patients with ataxia telangiectasia present with increased levels of AFP. Most patients have increased levels after the age of 2, and these levels are especially high in the newborn.
About two thirds of people with this disease have abnormalities of the immune system with an IgA deficiency being the most common. This makes individuals susceptible to repeated sino pulmonary infections.
About two thirds of people with this disease have abnormalities of the immune system with an IgA deficiency being the most common. This makes individuals susceptible to repeated sinopulmonary infections.
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