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Infections and immune dysregulation in ataxia-telangiectasia children with hyper-IgM and non-hyper-IgM phenotypes: A single-center experience

Ataxia-telangiectasia (A-T) is a severe syndromic neurodegenerative inborn error of immunity characterized by DNA reparation defect, chromosomal instability, and hypersensitivity to ionizing radiation, thereby predisposing affected individuals to malignant transformation. While the leading disease s...

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Detalles Bibliográficos
Autores principales: Szczawińska-Popłonyk, Aleksandra, Tąpolska-Jóźwiak, Katarzyna, Schwartzmann, Eyal, Pietrucha, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631935/
https://www.ncbi.nlm.nih.gov/pubmed/36340711
http://dx.doi.org/10.3389/fped.2022.972952