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Article

The genetic defect in ataxia-telangiectasia.

Annual review of immunology - 1 Jan 1997

Lavin M F, Shiloh Y

Abstract excerpt

The autosomal recessive human disorder ataxia-telangiectasia (A-T) was first described as a separate disease entity 40 years ago. It is a multisystem disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, radiosensitivity, predisposition to lymphoid malignancies and immunodeficiency, with defects in both cellular and humoral immunity. The pleiotropic nature of the clinical and...

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Source

Identifiers

PMID: 9143686
DOI: 10.1146/annurev.immunol.15.1.177

Genes

ATM

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

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