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Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by neurodegeneration, combined immunodeficiency, and oculocutaneous telangiectasia. The hyper-IgM phenotype of A-T, correlating with a class-switch recombination defect, IgG and IgA deficiency, T helper and B cell lymphopen...

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Detalles Bibliográficos
Autores principales:	Szczawińska-Popłonyk, Aleksandra, Ossowska, Lidia, Jończyk-Potoczna, Katarzyna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711070/ https://www.ncbi.nlm.nih.gov/pubmed/33330270 http://dx.doi.org/10.3389/fped.2020.570330

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