Article

Journal of Clinical Immunology

, Volume 31, Issue 2, pp 155-166

First online:

CD8+ T Cells in Facioscapulohumeral Muscular Dystrophy Patients with Inflammatory Features at Muscle MRI

  • Giovanni FrisulloAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of Rome
  • , Roberto FruscianteAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of Rome
  • , Viviana NocitiAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of RomeFondazione Don Carlo Gnocchi
  • , Giorgio TascaAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of Rome
  • , Rosaria RennaAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of Rome
  • , Raffaele IorioAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of Rome
  • , Agata Katia PatanellaAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of RomeFondazione Don Carlo Gnocchi
  • , Elisabetta IannacconeAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of Rome
  • , Alessandro MartiAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of Rome
    • , Monica RossiAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of RomeFondazione Don Carlo Gnocchi
    • , Assunta BiancoAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of Rome
    • , Mauro MonforteAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of Rome
    • , Pietro Attilio TonaliAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of RomeFondazione Don Carlo Gnocchi
    • , Massimiliano MirabellaAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of RomeFondazione Don Carlo Gnocchi
    • , Anna Paola BatocchiAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of Rome Email author 
    • , Enzo RicciAffiliated withInstitute of Neurology, Department of Neurosciences, Catholic University of RomeFondazione Don Carlo Gnocchi

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Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an inherited disease, and although strongly suggested, a contribution of inflammation to its pathogenesis has never been demonstrated. In FSHD patients, we found by immunohistochemistry inflammatory infiltrates mainly composed by CD8+ T cells in muscles showing hyperintensity features on T2-weighted short tau inversion recovery magnetic resonance imaging (T2-STIR-MRI) sequences. Therefore, we evaluated the presence of circulating activated immune cells and the production of cytokines in patients with or without muscles showing hyperintensity features on T2-STIR-MRI sequences and from controls. FSHD patients displaying hyperintensity features in one or more muscles showed higher CD8+pSTAT1+, CD8+T-bet+ T cells and CD14+pSTAT1+, CD14+T-bet+ cells percentages and IL12p40, IFNγ and TNFα levels than patients without muscles displaying hyperintense features and controls. Moreover, the percentages of CD8+pSTAT1+, CD8+T-bet+ and CD14+pSTAT1+ cells correlated with the proportion of muscles displaying hyperintensity features at T2-STIR sequences. These data indicate that circulating activated immune cells, mainly CD8+ T cells, may favour FSHD progression by promoting active phases of muscle inflammation.

Keywords

T-bet pSTAT1 cytokines FSHD muscle MRI CD8 T cells inflammation