Ataxia-Telangiectasia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management Publisher Pubmed



Amirifar P^{1, 2} ; Ranjouri MR^{2, 3} ; Lavin M⁴ ; Abolhassani H^{5, 6} ; Yazdani R² ; Aghamohammadi A²
Source: Expert Review of Clinical Immunology Published:2020

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. © 2020 Informa UK Limited, trading as Taylor & Francis Group.