Affecting the nervous system, immune system and other body organs, ataxia telangiectasia is characterized with uncoordinated movements of the individual suffering from this disorder. The secondary ...

New research lends insight into the pathogenesis of neurodegeneration in Ataxia telangiectasia. Ataxia telangiectasia (A-T) is a rare, genetic immunodeficiency disease that affects multiple organ ...

IMMUNOLOGIC abnormalities, including hypogammaglobulinemia, abnormalities of gamma 1 A globulin, poor homograft rejection and structural abnormalities of the thymus gland, have recently been reported ...

We identified 421 patients with FA and 160 patients with AT diagnosed between 1973 and 2020 through German DNA repair disorder reference laboratories. We linked patients' laboratory data with ...

An IgE deficiency was demonstrated in 11 of 16 patients with ataxia-telangiectasia. No relation to age or to the level of IgG, IgM or IgD was found. Nine out of 11 patients with IgE and IgA deficiency ...

Immunodeficiency in ataxia telangiectasia (A-T) is less severe in patients expressing some mutant or normal ATM kinase activity. We, therefore, determined whether expression of residual ATM kinase ...

A total of 76 participants have been enrolled, including 65 participants in the six to nine year-old primary analysis population and 11 participants aged 10 years or older. Study powering based on ...

Should We Screen for Malignancies in People With ataxia telangiectasia? The following represents disclosure information provided by authors of this manuscript. All relationships are considered ...

Stability and repair of DNA is of principal importance in cell survival. Heme oxygenase-1 (HO-1; Hmox1) is critical in maintaining cellular homeostasis, in large part through its ability to generate ...

"The boys are constantly talking about police officers and checking out books about them at the library," the twins' mom, Jen Fernando, tells PEOPLE Anya Leon is a Senior News Editor and the Parents ...

LOS ANGELES--(BUSINESS WIRE)--ChromaDex Corp. (NASDAQ:CDXC), the global authority on nicotinamide adenine dinucleotide (NAD +) and healthy aging research, today announced that the U.S. Food & Drug ...