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

Abstract:

: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 lymphopenia, immune dysregulation, proinflammatory immune response, autoimmune disease, and a high risk of lymphomagenesis. Progressive liver disease is a hallmark of classical A-T with the hyper-IgM phenotype and manifests as non-alcoholic hepatic steatosis and fibrosis. We report a case of a 17-year-old male A-T patient, in whom a progressive granulomatous liver disease with portal hypertension, has led to massive splenomegaly and hypersplenism, metabolic liver insufficiency, bleeding from esophageal varices and pancytopenia. In this patient, an unusual severe disease course with a highly variable constellation of A-T symptomatology includes granulomatous skin, visceral, and internal organs disease with liver involvement. The liver disease is associated with the hyper-IgM immunophenotype and escalating neurodegeneration, creating a vicious circle of immune deficiency, permanent systemic inflammatory response, and organ-specific immunopathology.

journal_name

Front Pediatr

journal_title

Frontiers in pediatrics

authors

Szczawińska-Popłonyk A,Ossowska L,Jończyk-Potoczna K

doi

10.3389/fped.2020.570330

subject

Has Abstract

pub_date

2020-11-19 00:00:00

pages

570330

issn

2296-2360

journal_volume

8

pub_type

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