Definition of the disease Ataxia telangiectasia (AT) is an autosomal recessive disorder
primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency …

Abstract Ataxia‐telangiectasia (A‐T) is an autosomal recessive primary immunodeficiency
(PID) disease that is caused by mutations in ataxia‐telangiectasia mutated (ATM) gene …

Dysfunction in Ataxia-telangiectasia mutated (ATM), a central component of the DNA repair
machinery, results in Ataxia Telangiectasia (AT), a cancer-prone disease with a variety of …

The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

Deficiency in repair of nuclear and mitochondrial DNA damage has been linked to several
neurodegenerative disorders. Many recent experimental results indicate that the post-mitotic …

Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …

The purpose of this Practice Parameter for the Diagnosis and Management of Primary
Immunodeficiency is to provide the consultant allergist/immunologist with a practical guide …

Ataxia telangiectasia (AT) has long intrigued the biomedical research community owing to
the spectrum of defects that are characteristic of the disease, including neurodegeneration …

ATM (ataxia-telangiectasia mutated) is a PI3K-like kinase best known for its role in the DNA
damage response (DDR), especially after double-strand breaks. Mutations in the ATM gene …

Ataxia telangiectasia (AT) results from inactivation of the ATM protein kinase. DNA-damage
signaling is a prime function of this kinase, although other roles have been ascribed to ATM …