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 …

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

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

Purpose Biallelic mutations in ATM cause ataxia-telangiectasia (AT), a rare inherited
disease with a high incidence of cancer. Precise estimates of the risk, presentation, and …

Abstract Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency
disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or …

Abstract Ataxia‐telangiectasia (A‐T) is an autosomal recessive neurodegenerative disorder
with multisystem involvement and cancer predisposition, caused by mutations in the A‐T …

Fanconi anaemia (FA), ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS) and
Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders …

Ataxia‐telangiectasia is an autosomal recessive neurodegenerative disorder that was
initially thought to present exclusively in childhood. With the discovery of the ATM gene, the …

Ataxia telangiectasia (A‐T) is a rare recessively inherited disorder resulting in a progressive
neurological decline. It is caused by biallelic mutation of the ATM gene that encodes a 370 …