Article
Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.
Frontiers in immunology - 1 Jan 2022
Blanchard-Rohner Geraldine, Peirolo Anna, Coulon Ludivine, Korff Christian, Horvath Judit, Burkhard Pierre R, Gumy-Pause Fabienne, Ranza Emmanuelle, Jandus Peter, Dibra Harpreet, Taylor Alexander Malcolm R, Fluss Joel
Abstract excerpt
Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder (PID) characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classical ataxia-telangiectasia (classical A-T) phenotype, a variant phenotype...
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