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Article

Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia

26 Jan 2024

Abstract excerpt

Background Ataxia telangiectasia (AT) is characterized by cerebellar ataxia, telangiectasia, immunodeficiency, and increased cancer susceptibility and is caused by mutations in the ataxia telangiectasia mutated (ATM) gene. The immunodeficiency comprises predominantly immunoglobulin deficiency, mainly IgA and IgG 2 , with a variable severity. So far, the exact mechanisms underlying the immunoglobulin deficiency,...

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PMID: 38280573
DOI: 10.1016/j.jaci.2023.12.029

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