What is Ataxia Telangiectasia? | Immunology for Medical Students | V-Learning™

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06/24/23

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Knowing is half of the battle!

Although Ataxia telangiectasia can neither be treated nor it has a specific therapy for the neurological problems associated with this disease. But knowing about this diseases can be helpful in many ways!

Ataxia Telangiectasia
Ataxia Telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by:

✔️ Immunodeficiency
✔️ Cerebellar degeneration
✔️ Ocular telangiectasia

Etiology Ataxia telangiectasia
It is often referred to as a genome instability or DNA damage response syndrome. It is the damage on the 14th chromosome that has caused by breakage and translocation. This causes defects in the gene loci for TCR and immunoglobulins.

This condition can lead to sinopulmonary syndrome that is characterized by:

✔️ Sinusitis
✔️ Lung Infection

Therapy is symptomatic as there is no cure for this disease!

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