Ataxia Telangiectasia in Latin America: clinical features, immunodeficiency and mortality in a multicenter study

Abstract excerpt

<title>Abstract</title> <p>Ataxia-telangiectasia (AT) is a rare neurodegenerative genetic disorder leading to neurological defects, telangiectasias and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze the factors associated with AT-related mortality. Referral centers (<italic>n</italic> = 46) from 9 Latin American countries participated in...

Topics

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• Ataxia Telangiectasia
• Ataxia Telangiectasia Mutated Proteins
• DNA Repair Mechanisms
• Mutation
• Oxidative Stress
• Phenotype
• Primary Immunodeficiency Diseases
• Risk

Identifiers and source

Literature Corpus work

8f416b1b-ec58-58e8-9e26-25d814c8828a

DOI

10.21203/rs.3.rs-3481215/v1