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Article

Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.

Expert review of clinical immunology - 1 Sept 2020

Amirifar Parisa, Ranjouri Mohammad Reza, Lavin Martin, Abolhassani Hassan, Yazdani Reza, Aghamohammadi Asghar

Abstract excerpt

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...

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PMID: 32791865
DOI: 10.1080/1744666X.2020.1810570

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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