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Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms

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 indi...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831727/
https://www.ncbi.nlm.nih.gov/pubmed/35154108
http://dx.doi.org/10.3389/fimmu.2022.791522