Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management. (1st September 2020)

• Record Type: Journal Article
• Authors: Amirifar, Parisa; Ranjouri, Mohammad Reza; Lavin, Martin; Abolhassani, Hassan; Yazdani, Reza; Aghamohammadi, Asghar
• Is Part Of: Expert review of clinical immunology. Volume 16:Number 9(2020)
• Page Start: 859
• Page End: 871
• Publication Date: 2020-09-01
• Subjects: Ataxia telangiectasia (A-T) -- primary immunodeficiency -- ATM -- double-strand break repair -- oxidative stress; Clinical immunology -- Periodicals; 616.079
• DOI: 10.1080/1744666X.2020.1810570
• Languages: English
• ISSNs: 1744-666X

Abstract

ABSTRACT: Introduction: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable immunodeficiency, radiosensitivity, and cancer predisposition. Mutations cause A-T in the ataxia telangiectasia mutated ( ATM ) gene encoding a serine/threonine-protein kinase. Areas covered: The authors reviewed the literature on PubMed, Web of Science, and Scopus databases to collect comprehensive data related to A-T. This review aims to discuss various update aspects of A-T, including epidemiology, pathogenesis, clinical manifestations, diagnosis, prognosis, and management. Expert opinion: A-T as a congenital disorder has phenotypic heterogeneity, and the severity of symptoms in different patients depends on the severity of mutations. This review provides a comprehensive overview of A-T, although some relevant questions about pathogenesis remain unanswered, probably owing to the phenotypic heterogeneity of this monogenic disorder. The presence of various clinical and immunologic manifestations in A-T indicates that the identification of the role of defective ATM in phenotype can be helpful in the better management and treatment of patients in the future.