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

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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Bibliographic Details
Main Authors: Aleksandra Szczawińska-Popłonyk, Lidia Ossowska, Katarzyna Jończyk-Potoczna
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Pediatrics
Subjects:
primary immunodeficiency
hyper-IgM phenotype
granulomatous liver disease
hypersplenism
children
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2020.570330/full

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