Ataxia telangiectasia overview: Difference between revisions
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'''Ataxia-telangiectasia''' (AT) is a primary [[immunodeficiency]] disorder. It is associated with a defect in [[T-cell]]s.<ref name="titleAtaxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual Professional">{{cite web |url=http://www.merck.com/mmpe/sec13/ch164/ch164c.html |title=Ataxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual Professional |accessdate=2008-03-01 |format= |work=}}</ref> | '''Ataxia-telangiectasia''' (AT) is a primary [[immunodeficiency]] disorder. It is associated with a defect in [[T-cell]]s.<ref name="titleAtaxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual Professional">{{cite web |url=http://www.merck.com/mmpe/sec13/ch164/ch164c.html |title=Ataxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual Professional |accessdate=2008-03-01 |format= |work=}}</ref> | ||
<br> '''A-T''' is caused by mutations in the '''ATM''' gene on chromosome '''11q22.3'''. It has various clinical and genetic presentations, and 2 types of the disease have been reported. <ref>{{https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590299/}}</ref> | |||
== References == | == References == | ||
Revision as of 17:07, 13 June 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Ataxia-telangiectasia (AT) is a primary immunodeficiency disorder. It is associated with a defect in T-cells.[1]
A-T is caused by mutations in the ATM gene on chromosome 11q22.3. It has various clinical and genetic presentations, and 2 types of the disease have been reported. [2]